MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Ressourcenprofil: MII PR MolGen Variante - Detaillierte Beschreibungen

Active Stand: 2026-09-13

Definitionen für das mii-pr-molgen-variante ressourcenprofil

Guidance on how to interpret the contents of this table can be foundhere

0. Observation
Definition

Measurements and simple assertions made about a patient, device or other subject.

ShortVariantMeasurements and simple assertions
Comments

Used for simple observations such as device measurements, laboratory atomic results, vital signs, height, weight, smoking status, comments, etc. Other resources are used to provide context for observations such as laboratory reports, etc.

Control0..*
Is Modifierfalse
Summaryfalse
Alternate NamesVital Signs, Measurement, Results, Tests
Invariantsdom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources (contained.contained.empty())
dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource (contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty())
dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated (contained.meta.versionId.empty() and contained.meta.lastUpdated.empty())
dom-5: If a resource is contained in another resource, it SHALL NOT have a security label (contained.meta.security.empty())
dom-6: A resource should have narrative for robust management (text.`div`.exists())
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present (dataAbsentReason.empty() or value.empty())
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present (value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty())
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present (dataAbsentReason.empty() or value.empty())
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present (value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty())
2. Observation.implicitRules
Definition

A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.

ShortA set of rules under which this content was created
Comments

Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.

Control0..1
Typeuri
Is Modifiertrue because This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation
Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
Summarytrue
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
4. Observation.extension:secondary-finding
Slice Namesecondary-finding
Definition

Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.

For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings.

ShortSecondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
Control0..1
TypeExtension(Observation Secondary Finding) (Extension Type: CodeableConcept)
Is Modifierfalse
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
6. Observation.extension:body-structure
Slice Namebody-structure
Definition

Record details about the anatomical location of a specimen or body part. This resource may be used when a coded concept does not provide the necessary detail needed for the use case.

ShortTarget anatomic location or structure
Control0..1
TypeExtension(BodyStructure Reference) (Extension Type: Reference(BodyStructure))
Is Modifierfalse
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
8. Observation.modifierExtension
Definition

May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

ShortExtensions that cannot be ignored
Comments

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Control0..*
TypeExtension
Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them
Summaryfalse
Requirements

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Alternate Namesextensions, user content
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
10. Observation.status
Definition

Status der Beobachtung


The status of the result value.

ShortStatusregistered | preliminary | final | amended +
Comments

This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid.

Control1..1
BindingThe codes SHALL be taken from ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1
(required to http://hl7.org/fhir/ValueSet/observation-status|4.0.1)

Codes providing the status of an observation.

Typecode
Is Modifiertrue because This element is labeled as a modifier because it is a status element that contains status entered-in-error which means that the resource should not be treated as valid
Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
Must Supporttrue
Summarytrue
Requirements

Need to track the status of individual results. Some results are finalized before the whole report is finalized.

Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
12. Observation.category
Definition

Klassifizierung der Beobachtungsart


A code that classifies the general type of observation being made.

ShortKategorieClassification of type of observation
Comments

In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

Control20..*
BindingThe codes SHOULD be taken from ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category|4.0.1
(preferred to http://hl7.org/fhir/ValueSet/observation-category)

Codes for high level observation categories.

TypeCodeableConcept
Is Modifierfalse
Must Supporttrue
Summaryfalse
Requirements

Used for filtering what observations are retrieved and displayed.

Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
SlicingThis element introduces a set of slices on Observation.category. The slices areUnordered and Open, and can be differentiated using the following discriminators:
  • value @ coding
  • 14. Observation.category:labCategory
    Slice NamelabCategory
    Definition

    A code that classifies the general type of observation being made.

    ShortClassification of type of observation
    Comments

    In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

    Control10..1*
    BindingThe codes SHOULD be taken from ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category|4.0.1
    (preferred to http://hl7.org/fhir/ValueSet/observation-category)

    Codes for high level observation categories.

    TypeCodeableConcept
    Is Modifierfalse
    Summaryfalse
    Requirements

    Used for filtering what observations are retrieved and displayed.

    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    16. Observation.category:labCategory.coding
    Definition

    A reference to a code defined by a terminology system.

    ShortCode defined by a terminology system
    Comments

    Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

    Control10..1*
    TypeCoding
    Is Modifierfalse
    Summarytrue
    Requirements

    Allows for alternative encodings within a code system, and translations to other code systems.

    Pattern Value{
      "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
      "code" : "laboratory"
    }
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    18. Observation.category:geCategory
    Slice NamegeCategory
    Definition

    A code that classifies the general type of observation being made.

    ShortClassification of type of observation
    Comments

    In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

    Control10..1*
    BindingThe codes SHOULD be taken from ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category|4.0.1
    (preferred to http://hl7.org/fhir/ValueSet/observation-category)

    Codes for high level observation categories.

    TypeCodeableConcept
    Is Modifierfalse
    Summaryfalse
    Requirements

    Used for filtering what observations are retrieved and displayed.

    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    20. Observation.category:geCategory.coding
    Definition

    A reference to a code defined by a terminology system.

    ShortCode defined by a terminology system
    Comments

    Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

    Control10..1*
    TypeCoding
    Is Modifierfalse
    Summarytrue
    Requirements

    Allows for alternative encodings within a code system, and translations to other code systems.

    Pattern Value{
      "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
      "code" : "GE"
    }
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    22. Observation.code
    Definition

    Code zur Identifizierung der Varianten-Beobachtung


    Describes what was observed. Sometimes this is called the observation "name".

    ShortCodeType of observation (code / type)
    Comments

    All code-value and, if present, component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

    Control1..1
    BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
    (example to http://hl7.org/fhir/ValueSet/observation-codes)

    Codes identifying names of simple observations.

    TypeCodeableConcept
    Is Modifierfalse
    Must Supporttrue
    Summarytrue
    Requirements

    Knowing what kind of observation is being made is essential to understanding the observation.

    Alternate NamesName
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "69548-6"
      }]
    }
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    24. Observation.subject
    Definition

    Der Patient oder die Gruppe auf die sich die Variante bezieht


    The patient, or group of patients, location, or device this observation is about and into whose record the observation is placed. If the actual focus of the observation is different from the subject (or a sample of, part, or region of the subject), the focus element or the code itself specifies the actual focus of the observation.

    ShortPatient oder ProbandWho and/or what the observation is about
    Comments

    One would expect this element to be a cardinality of 1..1. The only circumstance in which the subject can be missing is when the observation is made by a device that does not know the patient. In this case, the observation SHALL be matched to a patient through some context/channel matching technique, and at this point, the observation should be updated.

    Control10..1
    TypeReference(Patient, Group, Patient, Group, Device, Location)
    Is Modifierfalse
    Must Supporttrue
    Must Support TypesNo must-support rules about the choice of types/profiles
    Summarytrue
    Requirements

    Observations have no value if you don't know who or what they're about.

    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    26. Observation.effective[x]
    Definition

    Klinisch relevanter Zeitpunkt oder Zeitraum der Beobachtung


    The time or time-period the observed value is asserted as being true. For biological subjects - e.g. human patients - this is usually called the "physiologically relevant time". This is usually either the time of the procedure or of specimen collection, but very often the source of the date/time is not known, only the date/time itself.

    ShortZeitpunkt der BeobachtungClinically relevant time/time-period for observation
    Comments

    At least a date should be present unless this observation is a historical report. For recording imprecise or "fuzzy" times (For example, a blood glucose measurement taken "after breakfast") use the Timing datatype which allow the measurement to be tied to regular life events.

    Control0..1
    TypeChoice of: dateTime, Period, Timing, instant
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    Is Modifierfalse
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    Must Supporttrue
    Must Support TypesNo must-support rules about the choice of types/profiles
    Summarytrue
    Requirements

    Knowing when an observation was deemed true is important to its relevance as well as determining trends.

    Alternate NamesOccurrence
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    28. Observation.issued
    Definition

    Datum und Uhrzeit der Freigabe der Beobachtung


    The date and time this version of the observation was made available to providers, typically after the results have been reviewed and verified.

    ShortFreigabedatumDate/Time this version was made available
    Comments

    For Observations that don’t require review and verification, it may be the same as the lastUpdated time of the resource itself. For Observations that do require review and verification for certain updates, it might not be the same as the lastUpdated time of the resource itself due to a non-clinically significant update that doesn’t require the new version to be reviewed and verified again.

    Control0..1
    Typeinstant
    Is Modifierfalse
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    Must Supporttrue
    Summarytrue
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    30. Observation.value[x]
    Definition

    Das Ergebnis der Variantenanalyse - vorhanden oder abwesend


    The information determined as a result of making the observation, if the information has a simple value.

    ShortErgebniswertActual result
    Comments

    An observation may have; 1) a single value here, 2) both a value and a set of related or component values, or 3) only a set of related or component values. If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

    Control0..1
    This element is affected by the following invariants: obs-7
    TypeChoice of: Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    Is Modifierfalse
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    Must Supporttrue
    Must Support TypesNo must-support rules about the choice of types/profiles
    Summarytrue
    Requirements

    An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    SlicingThis element introduces a set of slices on Observation.value[x]. The slices areUnordered and Closed, and can be differentiated using the following discriminators:
    • type @ $this
    • 32. Observation.value[x]:valueCodeableConcept
      Slice NamevalueCodeableConcept
      Definition

      The presence or absence of the variant described in the components. If not searching for specific variations and merely reporting what's found, the profile's value should be set to 'Present'.


      The information determined as a result of making the observation, if the information has a simple value.

      ShortIndeterminate | No call | Present | Absent.Actual result
      Comments

      See here for usage guidance.


      An observation may have; 1) a single value here, 2) both a value and a set of related or component values, or 3) only a set of related or component values. If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

      Control0..1
      This element is affected by the following invariants: obs-7
      BindingThe codes SHALL be taken from For codes, see LOINC Answer List LL1971-2
      (required to http://loinc.org/vs/LL1971-2)
      TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
      [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
      Is Modifierfalse
      Summarytrue
      Requirements

      An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      34. Observation.method
      Definition

      Die verwendete Untersuchungsmethode


      Indicates the mechanism used to perform the observation.

      ShortMethodeHow it was done
      Comments

      Only used if not implicit in code for Observation.code.

      Control0..1
      BindingUnless not suitable, these codes SHALL be taken from For example codes, see LOINC Answer List LL4048-6http://hl7.org/fhir/ValueSet/observation-methods|4.0.1
      (extensible to http://loinc.org/vs/LL4048-6)
      TypeCodeableConcept
      Is Modifierfalse
      Must Supporttrue
      Summaryfalse
      Requirements

      In some cases, method can impact results and is thus used for determining whether results can be compared or determining significance of results.

      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      36. Observation.specimen
      Definition

      Die untersuchte Probe


      The specimen that was used when this observation was made.

      ShortProbeSpecimen used for this observation
      Comments

      Should only be used if not implicit in code found in Observation.code. Observations are not made on specimens themselves; they are made on a subject, but in many cases by the means of a specimen. Note that although specimens are often involved, they are not always tracked and reported explicitly. Also note that observation resources may be used in contexts that track the specimen explicitly (e.g. Diagnostic Report).

      Control0..1
      TypeReference(Specimen, Specimen)
      Is Modifierfalse
      Must Supporttrue
      Summaryfalse
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      38. Observation.device
      Definition

      Das verwendete Analysegerät


      The device used to generate the observation data.

      ShortGerät(Measurement) Device
      Comments

      Note that this is not meant to represent a device involved in the transmission of the result, e.g., a gateway. Such devices may be documented using the Provenance resource where relevant.

      Control0..1
      TypeReference(Device, DeviceMetric, Device, DeviceMetric)
      Is Modifierfalse
      Must Supporttrue
      Must Support TypesNo must-support rules about the choice of types/profiles
      Summaryfalse
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      40. Observation.derivedFrom
      Definition

      The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

      ShortRelated measurements the observation is made from
      Comments

      All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

      Control0..*
      TypeReference(DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence, DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence)
      Is Modifierfalse
      Summarytrue
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      SlicingThis element introduces a set of slices on Observation.derivedFrom. The slices areUnordered and Open, and can be differentiated using the following discriminators:
      • profile @ resolve()
      • 42. Observation.component
        Definition

        Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

        ShortComponent results
        Comments

        For a discussion on the ways Observations can be assembled in groups together see Notes below.

        Control0..*
        TypeBackboneElement
        Is Modifierfalse
        Summarytrue
        Requirements

        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        SlicingThis element introduces a set of slices on Observation.component. The slices areUnordered and Open, and can be differentiated using the following discriminators:
        • value @ code
        • 44. Observation.component.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          46. Observation.component.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          ShortType of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          48. Observation.component:conclusion-string
          Slice Nameconclusion-string
          Definition

          Textuelle Zusammenfassung oder Schlussfolgerung zur Variante


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortSchlussfolgerung - TextComponent results
          Comments

          An example would be the interpretative information, typically canned, about a variant identified in the patient.


          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Need to be able to provide a conclusion that is not lost among the basic result data.


          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          50. Observation.component:conclusion-string.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          52. Observation.component:conclusion-string.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Shortconclusion-stringType of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
              "code" : "conclusion-string"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          54. Observation.component:gene-studied
          Slice Namegene-studied
          Definition

          Das untersuchte Gen identifiziert durch HGNC-ID


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortUntersuchtes GenComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          56. Observation.component:gene-studied.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          58. Observation.component:gene-studied.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short48018-6Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "48018-6"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          60. Observation.component:gene-studied.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortThe HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.Actual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingUnless not suitable, these codes SHALL be taken from For codes, see HUGO Gene Nomenclature Committee Gene Names (HGNC)
          (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          62. Observation.component:cytogenetic-location
          Slice Namecytogenetic-location
          Definition

          Chromosomale Position der Variante in Bandennomenklatur


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortZytogenetische LokalisationComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          64. Observation.component:cytogenetic-location.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          66. Observation.component:cytogenetic-location.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short48001-2Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "48001-2"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          68. Observation.component:cytogenetic-location.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortExample: 1q21.1Actual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          70. Observation.component:reference-sequence-assembly
          Slice Namereference-sequence-assembly
          Definition

          Die verwendete Referenzgenom-Version wie z.B. GRCh37 oder GRCh38


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortReferenzgenom-AssemblyComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          72. Observation.component:reference-sequence-assembly.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          74. Observation.component:reference-sequence-assembly.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short62374-4Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "62374-4"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          76. Observation.component:reference-sequence-assembly.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortGRCh37 | GRCh38 | ...Actual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL1040-6
          (extensible to http://loinc.org/vs/LL1040-6)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          78. Observation.component:chromosome-identifier
          Slice Namechromosome-identifier
          Definition

          Das betroffene Chromosom


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortChromosomComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          80. Observation.component:chromosome-identifier.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          82. Observation.component:chromosome-identifier.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short48000-4Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "48000-4"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          84. Observation.component:chromosome-identifier.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortChromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome YActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingThe codes SHALL be taken from For codes, see LOINC Answer List LL2938-0
          (required to http://loinc.org/vs/LL2938-0)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          86. Observation.component:representative-coding-hgvs
          Slice Namerepresentative-coding-hgvs
          Definition

          Die cDNA-Änderung in HGVS-Nomenklatur auf Transkriptebene


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortDNA-Änderung c.HGVSComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          88. Observation.component:representative-coding-hgvs.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          90. Observation.component:representative-coding-hgvs.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short48004-6Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "48004-6"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          92. Observation.component:representative-coding-hgvs.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortA valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.Actual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingThe codes SHALL be taken from For codes, see Human Genome Variation Society (HGVS) Nomenclature
          (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          94. Observation.component:genomic-hgvs
          Slice Namegenomic-hgvs
          Definition

          Die genomische DNA-Änderung in HGVS-Nomenklatur


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortGenomische DNA-Änderung g.HGVSComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          96. Observation.component:genomic-hgvs.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          98. Observation.component:genomic-hgvs.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short81290-9Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "81290-9"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          100. Observation.component:genomic-hgvs.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortA valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dupActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingThe codes SHALL be taken from For codes, see Human Genome Variation Society (HGVS) Nomenclature
          (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          102. Observation.component:cytogenomic-nomenclature
          Slice Namecytogenomic-nomenclature
          Definition

          Fully describes a variant with a single code. Typically a large variant such as a mosaic, abnormal chromosome numbers, etc.


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortCytogenomic Nomenclature (ISCN)Component results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          104. Observation.component:cytogenomic-nomenclature.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          106. Observation.component:cytogenomic-nomenclature.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short81291-7Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "81291-7"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          108. Observation.component:cytogenomic-nomenclature.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          Binding

          Binding not yet defined

          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          110. Observation.component:genomic-ref-seq
          Slice Namegenomic-ref-seq
          Definition

          Die genomische Referenzsequenz-ID wie z.B. NC_000007.14


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortGenomische ReferenzsequenzComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          112. Observation.component:genomic-ref-seq.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          114. Observation.component:genomic-ref-seq.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short48013-7Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "48013-7"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          116. Observation.component:genomic-ref-seq.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortVersioned genomic reference sequence identifierActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          Binding

          Multiple bindings acceptable (NCBI or LRG)

          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          118. Observation.component:representative-protein-ref-seq
          Slice Namerepresentative-protein-ref-seq
          Definition

          ID of the protein reference sequence, which includes transcribed and non transcribed stretches. It covers the entire protein described.


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortProtein Reference SequenceComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          120. Observation.component:representative-protein-ref-seq.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          122. Observation.component:representative-protein-ref-seq.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Shortprotein-ref-seqType of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
              "code" : "protein-ref-seq"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          124. Observation.component:representative-protein-ref-seq.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortVersioned protein reference sequence identifierActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          Binding

          Multiple bindings acceptable (NCBI or LRG)

          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          126. Observation.component:representative-transcript-ref-seq
          Slice Namerepresentative-transcript-ref-seq
          Definition

          Die Transkript-Referenzsequenz-ID wie z.B. NM_004333.4


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortTranskript-ReferenzsequenzComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          128. Observation.component:representative-transcript-ref-seq.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          130. Observation.component:representative-transcript-ref-seq.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short51958-7Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "51958-7"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          132. Observation.component:representative-transcript-ref-seq.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortVersioned transcript reference sequence identifierActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          Binding

          Multiple bindings acceptable (NCBI or LRG)

          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          134. Observation.component:exact-start-end
          Slice Nameexact-start-end
          Definition

          Die exakten genomischen Koordinaten der Variante - Start und Ende


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortExakte Start-End-PositionComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          136. Observation.component:exact-start-end.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          138. Observation.component:exact-start-end.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short81254-5Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "81254-5"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          140. Observation.component:inner-start-end
          Slice Nameinner-start-end
          Definition

          Der innere Bereich bei strukturellen Varianten


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortInnere Start-End-PositionComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          142. Observation.component:inner-start-end.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          144. Observation.component:inner-start-end.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short81302-2Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "81302-2"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          146. Observation.component:outer-start-end
          Slice Nameouter-start-end
          Definition

          Der äußere Bereich bei strukturellen Varianten


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortÄußere Start-End-PositionComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          148. Observation.component:outer-start-end.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          150. Observation.component:outer-start-end.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short81301-4Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "81301-4"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          152. Observation.component:coordinate-system
          Slice Namecoordinate-system
          Definition

          These are different ways of identifying nucleotides or amino acids within a sequence. In the 1-based system, the first unit of the polymer (e.g. the first nucleotide) is counted as number 1. In the 0-based system, the number 0 designates the location before the first nucleotide. Different databases and file types may use different systems.


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortCoordinate SystemComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          154. Observation.component:coordinate-system.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          156. Observation.component:coordinate-system.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short92822-6Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "92822-6"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          158. Observation.component:coordinate-system.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          Short0-based interval counting | 0-based character counting | 1-based character countingActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL5323-2
          (extensible to http://loinc.org/vs/LL5323-2)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          160. Observation.component:ref-allele
          Slice Nameref-allele
          Definition

          Die Nukleotidsequenz des Referenz-Allels


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortReferenz-AllelComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          162. Observation.component:ref-allele.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          164. Observation.component:ref-allele.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short69547-8Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "69547-8"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          166. Observation.component:alt-allele
          Slice Namealt-allele
          Definition

          Die Nukleotidsequenz des alternativen - mutierten - Allels


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortAlternatives AllelComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          168. Observation.component:alt-allele.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          170. Observation.component:alt-allele.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short69551-0Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "69551-0"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          172. Observation.component:coding-change-type
          Slice Namecoding-change-type
          Definition

          Der Typ der DNA-Änderung wie z.B. Substitution oder Deletion


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortDNA-ÄnderungstypComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          174. Observation.component:coding-change-type.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          176. Observation.component:coding-change-type.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short48019-4Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "48019-4"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          178. Observation.component:coding-change-type.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          Shortdeletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)Actual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingUnless not suitable, these codes SHALL be taken from For codes, see DNA Change Type
          (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs)

          Concepts in sequence ontology under SO:0002072

          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          180. Observation.component:genomic-source-class
          Slice Namegenomic-source-class
          Definition

          Die Herkunft der Variante wie z.B. somatisch oder Keimbahn


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortGenomische HerkunftsklasseComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          182. Observation.component:genomic-source-class.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          184. Observation.component:genomic-source-class.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short48002-0Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "48002-0"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          186. Observation.component:genomic-source-class.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortGermline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novoActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL378-1
          (extensible to http://loinc.org/vs/LL378-1)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          188. Observation.component:sample-allelic-frequency
          Slice Namesample-allelic-frequency
          Definition

          Die Häufigkeit des varianten Allels in der untersuchten Probe


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortAllelfrequenz in der ProbeComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          190. Observation.component:sample-allelic-frequency.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          192. Observation.component:sample-allelic-frequency.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short81258-6Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "81258-6"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          194. Observation.component:allelic-read-depth
          Slice Nameallelic-read-depth
          Definition

          Die Anzahl der Reads die das Allel unterstützen


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortAllelische LesetiefeComponent results
          Comments

          See here for usage guidance.


          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          196. Observation.component:allelic-read-depth.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          198. Observation.component:allelic-read-depth.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short82121-5Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "82121-5"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          200. Observation.component:allelic-state
          Slice Nameallelic-state
          Definition

          Der Allelstatus wie z.B. heterozygot oder homozygot


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortAllelstatusComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          202. Observation.component:allelic-state.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          204. Observation.component:allelic-state.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short53034-5Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "53034-5"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          206. Observation.component:allelic-state.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | HemizygousActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL381-5
          (extensible to http://loinc.org/vs/LL381-5)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          208. Observation.component:variant-inheritance
          Slice Namevariant-inheritance
          Definition

          Die Vererbungsart der Variante wie z.B. maternal oder paternal


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortVarianten-VererbungComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          210. Observation.component:variant-inheritance.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          212. Observation.component:variant-inheritance.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short94186-4Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "94186-4"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          214. Observation.component:variant-inheritance.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortMaternal | Paternal | UnknownActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL5489-1
          (extensible to http://loinc.org/vs/LL5489-1)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          216. Observation.component:variant-inheritance-basis
          Slice Namevariant-inheritance-basis
          Definition

          The method by which the variant inheritance is determined.


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortEvidential basis for variant inheritanceComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          218. Observation.component:variant-inheritance-basis.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          220. Observation.component:variant-inheritance-basis.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          ShortBasis for allelic phaseType of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "82309-6"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          222. Observation.component:variant-inheritance-basis.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortDirectly measured | Family DNA | Family history | Inferred from population dataActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL4050-2
          (extensible to http://loinc.org/vs/LL4050-2)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          224. Observation.component:variation-code
          Slice Namevariation-code
          Definition

          Eindeutiger Identifikator der Variante aus externen Datenbanken wie z.B. ClinVar oder dbSNP


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortVarianten-CodeComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          226. Observation.component:variation-code.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          228. Observation.component:variation-code.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short81252-9Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "81252-9"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          230. Observation.component:variation-code.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortClinVar ID or similarActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          Binding

          Multiple bindings acceptable

          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          232. Observation.component:representative-protein-hgvs
          Slice Namerepresentative-protein-hgvs
          Definition

          Die Aminosäure-Änderung in HGVS-Nomenklatur auf Proteinebene


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortAminosäure-Änderung p.HGVSComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          234. Observation.component:representative-protein-hgvs.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          236. Observation.component:representative-protein-hgvs.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short48005-3Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "48005-3"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          238. Observation.component:representative-protein-hgvs.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortA valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)Actual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingThe codes SHALL be taken from For codes, see Human Genome Variation Society (HGVS) Nomenclature
          (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          240. Observation.component:copy-number
          Slice Namecopy-number
          Definition

          Die Anzahl der Kopien eines genomischen Abschnitts


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortKopienzahlComponent results
          Comments

          Copy number variants are often described with a single copy number value. However, due to the nature of assays, such as qPCR and microarray, it can be difficult to assign an exact copy number. Therefore, labs sometimes report a range instead of an exact copy number. They may alternatively choose to report decimal numbers, even if whole numbers are biologically correct.

          In general, it can be difficult to estimate a copy number from measurements taken on a heterogenous population of cells, such as a tumor. As indicated in the ISCN 2020 specifications, it is appropriate to express the measurements using a range. Furthermore, regardless of cell population, many assays use fluorescent probes to detect copy number. These testing methodologies do not always provide an exact, discrete value for this data point.


          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM.


          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          242. Observation.component:copy-number.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          244. Observation.component:copy-number.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short82155-3Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "82155-3"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          246. Observation.component:variant-confidence-status
          Slice Namevariant-confidence-status
          Definition

          Der Vertrauensstatus der Variantendetektion


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortKonfidenzstatus der VarianteComponent results
          Comments

          See here for usage guidance.


          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          248. Observation.component:variant-confidence-status.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          250. Observation.component:variant-confidence-status.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Shortvariant-confidence-statusType of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
              "code" : "variant-confidence-status"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          252. Observation.component:variant-confidence-status.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortHigh | Intermediate | LowActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingThe codes SHALL be taken from For codes, see Variant Confidence Status
          (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          254. Observation.component:repeat-motif
          Slice Namerepeat-motif
          Definition

          Nucleotides of a repeat expansion motif.


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortRepeat MotifComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..*
          TypeBackboneElement
          Is Modifierfalse
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          256. Observation.component:repeat-motif.extension:repeat-motif-order
          Slice Namerepeat-motif-order
          Definition

          Use to group and order repeat expansion motifs.

          ShortRepeat Motif Order
          Comments

          If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

          Control0..1
          This element is affected by the following invariants: ele-1
          TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
          Is Modifierfalse
          Requirements

          The value must be a natural number starting from 1 and increasing sequentially

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          258. Observation.component:repeat-motif.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          260. Observation.component:repeat-motif.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Shortrepeat-motifType of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
              "code" : "repeat-motif"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          262. Observation.component:repeat-motif.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortCAGActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          Typestring, dateTime, boolean, SampledData, Quantity, Period, Ratio, integer, time, Range, CodeableConcept
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          264. Observation.component:repeat-number
          Slice Namerepeat-number
          Definition

          Number of repeats of a repeat expansion.


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortRepeat NumberComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..*
          TypeBackboneElement
          Is Modifierfalse
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          266. Observation.component:repeat-number.extension:repeat-motif-order
          Slice Namerepeat-motif-order
          Definition

          Use to group and order repeat expansion motifs.

          ShortRepeat Motif Order
          Comments

          If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

          Control0..1
          This element is affected by the following invariants: ele-1
          TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
          Is Modifierfalse
          Requirements

          The value must be a natural number starting from 1 and increasing sequentially

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          268. Observation.component:repeat-number.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          270. Observation.component:repeat-number.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Shortrepeat-numberType of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
              "code" : "repeat-number"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          272. Observation.component:repeat-number.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          Short40Actual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          TypeQuantity, dateTime, boolean, string, SampledData, Period, Ratio, integer, time, Range, CodeableConcept
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          274. Observation.component:dna-region
          Slice Namedna-region
          Definition

          Ein lesbarer Name für die untersuchte Region. Typischerweise Exon # oder Intron # oder andere.


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortDNA-RegionsnameComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          276. Observation.component:dna-region.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          278. Observation.component:dna-region.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          Short47999-8Type of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "47999-8"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          280. Observation.component:dna-region.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          Typestring, dateTime, boolean, SampledData, Quantity, Period, Ratio, integer, time, Range, CodeableConcept
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          282. Observation.component:gene-fusion
          Slice Namegene-fusion
          Definition

          Details zur Genfusion in Blut oder Gewebe mittels molekulargenetischer Methode


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortGenfusionComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          284. Observation.component:gene-fusion.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          286. Observation.component:gene-fusion.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          ShortType of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "95123-6"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          288. Observation.component:gene-fusion.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortHGNC-Format für Genfusionen GENESYMBOL1::GENESYMBOL2 und Readthrough-Transkripte GENESYMBOL1-GENESYMBOL2Actual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control10..1
          BindingUnless not suitable, these codes SHALL be taken from For codes, see HUGO Gene Nomenclature Committee Gene Names (HGNC)
          (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          290. Observation.component:detection-limit
          Slice Namedetection-limit
          Definition

          Die Nachweisgrenze des Laborgeräts


          Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

          ShortNachweisgrenzeComponent results
          Comments

          For a discussion on the ways Observations can be assembled in groups together see Notes below.

          Control0..1*
          TypeBackboneElement
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          292. Observation.component:detection-limit.modifierExtension
          Definition

          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

          ShortExtensions that cannot be ignored even if unrecognized
          Comments

          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

          Control0..*
          TypeExtension
          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
          Summarytrue
          Requirements

          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

          Alternate Namesextensions, user content, modifiers
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          294. Observation.component:detection-limit.code
          Definition

          Describes what was observed. Sometimes this is called the observation "code".

          ShortType of component observation (code / type)
          Comments

          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

          Control1..1
          BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
          (example to http://hl7.org/fhir/ValueSet/observation-codes)

          Codes identifying names of simple observations.

          TypeCodeableConcept
          Is Modifierfalse
          Summarytrue
          Requirements

          Knowing what kind of observation is being made is essential to understanding the observation.

          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "87706-8"
            }]
          }
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          296. Observation.component:detection-limit.value[x]
          Definition

          The information determined as a result of making the observation, if the information has a simple value.

          ShortWird üblicherweise als Prozentsatz angegebenActual component result
          Comments

          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control0..1
          TypeQuantity, dateTime, boolean, string, SampledData, Period, Ratio, integer, time, Range, CodeableConcept
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))

          Guidance on how to interpret the contents of this table can be foundhere

          0. Observation
          2. Observation.status
          Definition

          Status der Beobachtung

          ShortStatus
          Must Supporttrue
          4. Observation.category
          Definition

          Klassifizierung der Beobachtungsart

          ShortKategorie
          Must Supporttrue
          6. Observation.code
          Definition

          Code zur Identifizierung der Varianten-Beobachtung

          ShortCode
          Must Supporttrue
          8. Observation.subject
          Definition

          Der Patient oder die Gruppe auf die sich die Variante bezieht

          ShortPatient oder Proband
          Control1..?
          TypeReference(Patient, Group)
          Must Supporttrue
          Must Support TypesNo must-support rules about the choice of types/profiles
          10. Observation.effective[x]
          Definition

          Klinisch relevanter Zeitpunkt oder Zeitraum der Beobachtung

          ShortZeitpunkt der Beobachtung
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Must Supporttrue
          12. Observation.issued
          Definition

          Datum und Uhrzeit der Freigabe der Beobachtung

          ShortFreigabedatum
          Must Supporttrue
          14. Observation.value[x]
          Definition

          Das Ergebnis der Variantenanalyse - vorhanden oder abwesend

          ShortErgebniswert
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Must Supporttrue
          16. Observation.method
          Definition

          Die verwendete Untersuchungsmethode

          ShortMethode
          Must Supporttrue
          18. Observation.specimen
          Definition

          Die untersuchte Probe

          ShortProbe
          Must Supporttrue
          20. Observation.device
          Definition

          Das verwendete Analysegerät

          ShortGerät
          Must Supporttrue
          22. Observation.component:conclusion-string
          Slice Nameconclusion-string
          Definition

          Textuelle Zusammenfassung oder Schlussfolgerung zur Variante

          ShortSchlussfolgerung - Text
          Must Supporttrue
          24. Observation.component:gene-studied
          Slice Namegene-studied
          Definition

          Das untersuchte Gen identifiziert durch HGNC-ID

          ShortUntersuchtes Gen
          Must Supporttrue
          26. Observation.component:cytogenetic-location
          Slice Namecytogenetic-location
          Definition

          Chromosomale Position der Variante in Bandennomenklatur

          ShortZytogenetische Lokalisation
          Must Supporttrue
          28. Observation.component:reference-sequence-assembly
          Slice Namereference-sequence-assembly
          Definition

          Die verwendete Referenzgenom-Version wie z.B. GRCh37 oder GRCh38

          ShortReferenzgenom-Assembly
          Must Supporttrue
          30. Observation.component:chromosome-identifier
          Slice Namechromosome-identifier
          Definition

          Das betroffene Chromosom

          ShortChromosom
          Must Supporttrue
          32. Observation.component:representative-coding-hgvs
          Slice Namerepresentative-coding-hgvs
          Definition

          Die cDNA-Änderung in HGVS-Nomenklatur auf Transkriptebene

          ShortDNA-Änderung c.HGVS
          Must Supporttrue
          34. Observation.component:genomic-hgvs
          Slice Namegenomic-hgvs
          Definition

          Die genomische DNA-Änderung in HGVS-Nomenklatur

          ShortGenomische DNA-Änderung g.HGVS
          Must Supporttrue
          36. Observation.component:genomic-ref-seq
          Slice Namegenomic-ref-seq
          Definition

          Die genomische Referenzsequenz-ID wie z.B. NC_000007.14

          ShortGenomische Referenzsequenz
          Must Supporttrue
          38. Observation.component:representative-transcript-ref-seq
          Slice Namerepresentative-transcript-ref-seq
          Definition

          Die Transkript-Referenzsequenz-ID wie z.B. NM_004333.4

          ShortTranskript-Referenzsequenz
          Must Supporttrue
          40. Observation.component:exact-start-end
          Slice Nameexact-start-end
          Definition

          Die exakten genomischen Koordinaten der Variante - Start und Ende

          ShortExakte Start-End-Position
          Must Supporttrue
          42. Observation.component:inner-start-end
          Slice Nameinner-start-end
          Definition

          Der innere Bereich bei strukturellen Varianten

          ShortInnere Start-End-Position
          Must Supporttrue
          44. Observation.component:outer-start-end
          Slice Nameouter-start-end
          Definition

          Der äußere Bereich bei strukturellen Varianten

          ShortÄußere Start-End-Position
          Must Supporttrue
          46. Observation.component:ref-allele
          Slice Nameref-allele
          Definition

          Die Nukleotidsequenz des Referenz-Allels

          ShortReferenz-Allel
          Must Supporttrue
          48. Observation.component:alt-allele
          Slice Namealt-allele
          Definition

          Die Nukleotidsequenz des alternativen - mutierten - Allels

          ShortAlternatives Allel
          Must Supporttrue
          50. Observation.component:coding-change-type
          Slice Namecoding-change-type
          Definition

          Der Typ der DNA-Änderung wie z.B. Substitution oder Deletion

          ShortDNA-Änderungstyp
          Must Supporttrue
          52. Observation.component:genomic-source-class
          Slice Namegenomic-source-class
          Definition

          Die Herkunft der Variante wie z.B. somatisch oder Keimbahn

          ShortGenomische Herkunftsklasse
          Must Supporttrue
          54. Observation.component:sample-allelic-frequency
          Slice Namesample-allelic-frequency
          Definition

          Die Häufigkeit des varianten Allels in der untersuchten Probe

          ShortAllelfrequenz in der Probe
          Must Supporttrue
          56. Observation.component:allelic-read-depth
          Slice Nameallelic-read-depth
          Definition

          Die Anzahl der Reads die das Allel unterstützen

          ShortAllelische Lesetiefe
          Must Supporttrue
          58. Observation.component:allelic-state
          Slice Nameallelic-state
          Definition

          Der Allelstatus wie z.B. heterozygot oder homozygot

          ShortAllelstatus
          Must Supporttrue
          60. Observation.component:variant-inheritance
          Slice Namevariant-inheritance
          Definition

          Die Vererbungsart der Variante wie z.B. maternal oder paternal

          ShortVarianten-Vererbung
          Must Supporttrue
          62. Observation.component:variation-code
          Slice Namevariation-code
          Definition

          Eindeutiger Identifikator der Variante aus externen Datenbanken wie z.B. ClinVar oder dbSNP

          ShortVarianten-Code
          Must Supporttrue
          64. Observation.component:representative-protein-hgvs
          Slice Namerepresentative-protein-hgvs
          Definition

          Die Aminosäure-Änderung in HGVS-Nomenklatur auf Proteinebene

          ShortAminosäure-Änderung p.HGVS
          Must Supporttrue
          66. Observation.component:copy-number
          Slice Namecopy-number
          Definition

          Die Anzahl der Kopien eines genomischen Abschnitts

          ShortKopienzahl
          Must Supporttrue
          68. Observation.component:variant-confidence-status
          Slice Namevariant-confidence-status
          Definition

          Der Vertrauensstatus der Variantendetektion

          ShortKonfidenzstatus der Variante
          Must Supporttrue
          70. Observation.component:dna-region
          Slice Namedna-region
          Definition

          Ein lesbarer Name für die untersuchte Region. Typischerweise Exon # oder Intron # oder andere.

          ShortDNA-Regionsname
          Control0..*
          Must Supporttrue
          72. Observation.component:dna-region.code
          Short47999-8
          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "47999-8"
            }]
          }
          74. Observation.component:dna-region.value[x]
          Control1..?
          Typestring
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          76. Observation.component:gene-fusion
          Slice Namegene-fusion
          Definition

          Details zur Genfusion in Blut oder Gewebe mittels molekulargenetischer Methode

          ShortGenfusion
          Control0..1
          Must Supporttrue
          78. Observation.component:gene-fusion.code
          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "95123-6"
            }]
          }
          80. Observation.component:gene-fusion.value[x]
          ShortHGNC-Format für Genfusionen GENESYMBOL1::GENESYMBOL2 und Readthrough-Transkripte GENESYMBOL1-GENESYMBOL2
          Control1..?
          BindingUnless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC)
          (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs)
          TypeCodeableConcept
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          82. Observation.component:detection-limit
          Slice Namedetection-limit
          Definition

          Die Nachweisgrenze des Laborgeräts

          ShortNachweisgrenze
          Control0..1
          Must Supporttrue
          84. Observation.component:detection-limit.code
          Pattern Value{
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "87706-8"
            }]
          }
          86. Observation.component:detection-limit.value[x]
          ShortWird üblicherweise als Prozentsatz angegeben
          TypeQuantity
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]

          Guidance on how to interpret the contents of this table can be foundhere

          0. Observation
          Definition

          Measurements and simple assertions made about a patient, device or other subject.

          ShortVariant
          Comments

          Used for simple observations such as device measurements, laboratory atomic results, vital signs, height, weight, smoking status, comments, etc. Other resources are used to provide context for observations such as laboratory reports, etc.

          Control0..*
          Is Modifierfalse
          Summaryfalse
          Alternate NamesVital Signs, Measurement, Results, Tests
          Invariantsdom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources (contained.contained.empty())
          dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource (contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty())
          dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated (contained.meta.versionId.empty() and contained.meta.lastUpdated.empty())
          dom-5: If a resource is contained in another resource, it SHALL NOT have a security label (contained.meta.security.empty())
          dom-6: A resource should have narrative for robust management (text.`div`.exists())
          obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present (dataAbsentReason.empty() or value.empty())
          obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present (value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty())
          2. Observation.id
          Definition

          The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.

          ShortLogical id of this artifact
          Comments

          The only time that a resource does not have an id is when it is being submitted to the server using a create operation.

          Control0..1
          Typeid
          Is Modifierfalse
          Summarytrue
          4. Observation.meta
          Definition

          The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource.

          ShortMetadata about the resource
          Control0..1
          TypeMeta
          Is Modifierfalse
          Summarytrue
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          6. Observation.implicitRules
          Definition

          A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.

          ShortA set of rules under which this content was created
          Comments

          Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.

          Control0..1
          Typeuri
          Is Modifiertrue because This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Summarytrue
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          8. Observation.language
          Definition

          The base language in which the resource is written.

          ShortLanguage of the resource content
          Comments

          Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute).

          Control0..1
          BindingThe codes SHOULD be taken from CommonLanguages
          (preferred to http://hl7.org/fhir/ValueSet/languages)

          A human language.

          Additional BindingsPurpose
          AllLanguagesMax Binding
          Typecode
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Summaryfalse
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          10. Observation.text
          Definition

          A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.

          ShortText summary of the resource, for human interpretation
          Comments

          Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later.

          Control0..1
          TypeNarrative
          Is Modifierfalse
          Summaryfalse
          Alternate Namesnarrative, html, xhtml, display
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          12. Observation.contained
          Definition

          These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.

          ShortContained, inline Resources
          Comments

          This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels.

          Control0..*
          TypeResource
          Is Modifierfalse
          Summaryfalse
          Alternate Namesinline resources, anonymous resources, contained resources
          14. Observation.extension
          Definition

          An Extension

          ShortExtension
          Control0..*
          TypeExtension
          Is Modifierfalse
          Summaryfalse
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
          SlicingThis element introduces a set of slices on Observation.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
          • value @ url
          • 16. Observation.extension:secondary-finding
            Slice Namesecondary-finding
            Definition

            Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.

            For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings.

            ShortSecondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
            Control0..1
            TypeExtension(Observation Secondary Finding) (Extension Type: CodeableConcept)
            Is Modifierfalse
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
            18. Observation.extension:body-structure
            Slice Namebody-structure
            Definition

            Record details about the anatomical location of a specimen or body part. This resource may be used when a coded concept does not provide the necessary detail needed for the use case.

            ShortTarget anatomic location or structure
            Control0..1
            TypeExtension(BodyStructure Reference) (Extension Type: Reference(BodyStructure))
            Is Modifierfalse
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
            20. Observation.modifierExtension
            Definition

            May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

            Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

            ShortExtensions that cannot be ignored
            Comments

            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

            Control0..*
            TypeExtension
            Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them
            Summaryfalse
            Requirements

            Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

            Alternate Namesextensions, user content
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
            22. Observation.identifier
            Definition

            A unique identifier assigned to this observation.

            ShortBusiness Identifier for observation
            NoteThis is a business identifier, not a resource identifier (see discussion)
            Control0..*
            TypeIdentifier
            Is Modifierfalse
            Summarytrue
            Requirements

            Allows observations to be distinguished and referenced.

            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            24. Observation.basedOn
            Definition

            A plan, proposal or order that is fulfilled in whole or in part by this event. For example, a MedicationRequest may require a patient to have laboratory test performed before it is dispensed.

            ShortFulfills plan, proposal or order
            Control0..*
            TypeReference(CarePlan, DeviceRequest, ImmunizationRecommendation, MedicationRequest, NutritionOrder, ServiceRequest)
            Is Modifierfalse
            Summarytrue
            Requirements

            Allows tracing of authorization for the event and tracking whether proposals/recommendations were acted upon.

            Alternate NamesFulfills
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            26. Observation.partOf
            Definition

            A larger event of which this particular Observation is a component or step. For example, an observation as part of a procedure.

            ShortPart of referenced event
            Comments

            To link an Observation to an Encounter use encounter. See the Notes below for guidance on referencing another Observation.

            Control0..*
            TypeReference(MedicationAdministration, MedicationDispense, MedicationStatement, Procedure, Immunization, ImagingStudy, Genomic Study)
            Is Modifierfalse
            Summarytrue
            Alternate NamesContainer
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            28. Observation.status
            Definition

            Status der Beobachtung

            ShortStatus
            Comments

            This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid.

            Control1..1
            BindingThe codes SHALL be taken from ObservationStatus
            (required to http://hl7.org/fhir/ValueSet/observation-status|4.0.1)

            Codes providing the status of an observation.

            Typecode
            Is Modifiertrue because This element is labeled as a modifier because it is a status element that contains status entered-in-error which means that the resource should not be treated as valid
            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
            Must Supporttrue
            Summarytrue
            Requirements

            Need to track the status of individual results. Some results are finalized before the whole report is finalized.

            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            30. Observation.category
            Definition

            Klassifizierung der Beobachtungsart

            ShortKategorie
            Comments

            In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

            Control2..*
            BindingThe codes SHOULD be taken from ObservationCategoryCodes
            (preferred to http://hl7.org/fhir/ValueSet/observation-category)

            Codes for high level observation categories.

            TypeCodeableConcept
            Is Modifierfalse
            Must Supporttrue
            Summaryfalse
            Requirements

            Used for filtering what observations are retrieved and displayed.

            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            SlicingThis element introduces a set of slices on Observation.category. The slices areUnordered and Open, and can be differentiated using the following discriminators:
            • value @ coding
            • 32. Observation.category:labCategory
              Slice NamelabCategory
              Definition

              A code that classifies the general type of observation being made.

              ShortClassification of type of observation
              Comments

              In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

              Control1..1
              BindingThe codes SHOULD be taken from ObservationCategoryCodes
              (preferred to http://hl7.org/fhir/ValueSet/observation-category)

              Codes for high level observation categories.

              TypeCodeableConcept
              Is Modifierfalse
              Summaryfalse
              Requirements

              Used for filtering what observations are retrieved and displayed.

              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
              34. Observation.category:labCategory.id
              Definition

              Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

              ShortUnique id for inter-element referencing
              Control0..1
              Typestring
              Is Modifierfalse
              XML FormatIn the XML format, this property is represented as an attribute.
              Summaryfalse
              36. Observation.category:labCategory.extension
              Definition

              May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

              ShortAdditional content defined by implementations
              Comments

              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

              Control0..*
              TypeExtension
              Is Modifierfalse
              Summaryfalse
              Alternate Namesextensions, user content
              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
              SlicingThis element introduces a set of slices on Observation.category.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
              • value @ url
              • 38. Observation.category:labCategory.coding
                Definition

                A reference to a code defined by a terminology system.

                ShortCode defined by a terminology system
                Comments

                Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

                Control1..1
                TypeCoding
                Is Modifierfalse
                Summarytrue
                Requirements

                Allows for alternative encodings within a code system, and translations to other code systems.

                Pattern Value{
                  "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                  "code" : "laboratory"
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                40. Observation.category:labCategory.text
                Definition

                A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.

                ShortPlain text representation of the concept
                Comments

                Very often the text is the same as a displayName of one of the codings.

                Control0..1
                Typestring
                Is Modifierfalse
                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                Summarytrue
                Requirements

                The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                42. Observation.category:geCategory
                Slice NamegeCategory
                Definition

                A code that classifies the general type of observation being made.

                ShortClassification of type of observation
                Comments

                In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

                Control1..1
                BindingThe codes SHOULD be taken from ObservationCategoryCodes
                (preferred to http://hl7.org/fhir/ValueSet/observation-category)

                Codes for high level observation categories.

                TypeCodeableConcept
                Is Modifierfalse
                Summaryfalse
                Requirements

                Used for filtering what observations are retrieved and displayed.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                44. Observation.category:geCategory.id
                Definition

                Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                ShortUnique id for inter-element referencing
                Control0..1
                Typestring
                Is Modifierfalse
                XML FormatIn the XML format, this property is represented as an attribute.
                Summaryfalse
                46. Observation.category:geCategory.extension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                ShortAdditional content defined by implementations
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                TypeExtension
                Is Modifierfalse
                Summaryfalse
                Alternate Namesextensions, user content
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                SlicingThis element introduces a set of slices on Observation.category.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                • value @ url
                • 48. Observation.category:geCategory.coding
                  Definition

                  A reference to a code defined by a terminology system.

                  ShortCode defined by a terminology system
                  Comments

                  Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

                  Control1..1
                  TypeCoding
                  Is Modifierfalse
                  Summarytrue
                  Requirements

                  Allows for alternative encodings within a code system, and translations to other code systems.

                  Pattern Value{
                    "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
                    "code" : "GE"
                  }
                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  50. Observation.category:geCategory.text
                  Definition

                  A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.

                  ShortPlain text representation of the concept
                  Comments

                  Very often the text is the same as a displayName of one of the codings.

                  Control0..1
                  Typestring
                  Is Modifierfalse
                  Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                  Summarytrue
                  Requirements

                  The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.

                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  52. Observation.code
                  Definition

                  Code zur Identifizierung der Varianten-Beobachtung

                  ShortCode
                  Comments

                  All code-value and, if present, component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                  Control1..1
                  BindingFor example codes, see LOINCCodes
                  (example to http://hl7.org/fhir/ValueSet/observation-codes)

                  Codes identifying names of simple observations.

                  TypeCodeableConcept
                  Is Modifierfalse
                  Must Supporttrue
                  Summarytrue
                  Requirements

                  Knowing what kind of observation is being made is essential to understanding the observation.

                  Alternate NamesName
                  Pattern Value{
                    "coding" : [{
                      "system" : "http://loinc.org",
                      "code" : "69548-6"
                    }]
                  }
                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  54. Observation.subject
                  Definition

                  Der Patient oder die Gruppe auf die sich die Variante bezieht

                  ShortPatient oder Proband
                  Comments

                  One would expect this element to be a cardinality of 1..1. The only circumstance in which the subject can be missing is when the observation is made by a device that does not know the patient. In this case, the observation SHALL be matched to a patient through some context/channel matching technique, and at this point, the observation should be updated.

                  Control1..1
                  TypeReference(Patient, Group)
                  Is Modifierfalse
                  Must Supporttrue
                  Must Support TypesNo must-support rules about the choice of types/profiles
                  Summarytrue
                  Requirements

                  Observations have no value if you don't know who or what they're about.

                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  56. Observation.focus
                  Definition

                  The actual focus of an observation when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, fetus, or donor. For example, fetus observations in a mother's record. The focus of an observation could also be an existing condition, an intervention, the subject's diet, another observation of the subject, or a body structure such as tumor or implanted device. An example use case would be using the Observation resource to capture whether the mother is trained to change her child's tracheostomy tube. In this example, the child is the patient of record and the mother is the focus.

                  ShortWhat the observation is about, when it is not about the subject of record
                  Comments

                  Typically, an observation is made about the subject - a patient, or group of patients, location, or device - and the distinction between the subject and what is directly measured for an observation is specified in the observation code itself ( e.g., "Blood Glucose") and does not need to be represented separately using this element. Use specimen if a reference to a specimen is required. If a code is required instead of a resource use either bodysite for bodysites or the standard extension focusCode.

                  Control0..*
                  TypeReference(Resource)
                  Is Modifierfalse
                  Summarytrue
                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  58. Observation.encounter
                  Definition

                  The healthcare event (e.g. a patient and healthcare provider interaction) during which this observation is made.

                  ShortHealthcare event during which this observation is made
                  Comments

                  This will typically be the encounter the event occurred within, but some events may be initiated prior to or after the official completion of an encounter but still be tied to the context of the encounter (e.g. pre-admission laboratory tests).

                  Control0..1
                  TypeReference(Encounter)
                  Is Modifierfalse
                  Summarytrue
                  Requirements

                  For some observations it may be important to know the link between an observation and a particular encounter.

                  Alternate NamesContext
                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  60. Observation.effective[x]
                  Definition

                  Klinisch relevanter Zeitpunkt oder Zeitraum der Beobachtung

                  ShortZeitpunkt der Beobachtung
                  Comments

                  At least a date should be present unless this observation is a historical report. For recording imprecise or "fuzzy" times (For example, a blood glucose measurement taken "after breakfast") use the Timing datatype which allow the measurement to be tied to regular life events.

                  Control0..1
                  TypeChoice of: dateTime, Period, Timing, instant
                  [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                  Is Modifierfalse
                  Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                  Must Supporttrue
                  Must Support TypesNo must-support rules about the choice of types/profiles
                  Summarytrue
                  Requirements

                  Knowing when an observation was deemed true is important to its relevance as well as determining trends.

                  Alternate NamesOccurrence
                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  62. Observation.issued
                  Definition

                  Datum und Uhrzeit der Freigabe der Beobachtung

                  ShortFreigabedatum
                  Comments

                  For Observations that don’t require review and verification, it may be the same as the lastUpdated time of the resource itself. For Observations that do require review and verification for certain updates, it might not be the same as the lastUpdated time of the resource itself due to a non-clinically significant update that doesn’t require the new version to be reviewed and verified again.

                  Control0..1
                  Typeinstant
                  Is Modifierfalse
                  Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                  Must Supporttrue
                  Summarytrue
                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  64. Observation.performer
                  Definition

                  Who was responsible for asserting the observed value as "true".

                  ShortWho is responsible for the observation
                  Control0..*
                  TypeReference(Practitioner, PractitionerRole, Organization, CareTeam, Patient, RelatedPerson)
                  Is Modifierfalse
                  Summarytrue
                  Requirements

                  May give a degree of confidence in the observation and also indicates where follow-up questions should be directed.

                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  66. Observation.value[x]
                  Definition

                  Das Ergebnis der Variantenanalyse - vorhanden oder abwesend

                  ShortErgebniswert
                  Comments

                  An observation may have; 1) a single value here, 2) both a value and a set of related or component values, or 3) only a set of related or component values. If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                  Control0..1
                  This element is affected by the following invariants: obs-7
                  TypeChoice of: Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
                  [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                  Is Modifierfalse
                  Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                  Must Supporttrue
                  Must Support TypesNo must-support rules about the choice of types/profiles
                  Summarytrue
                  Requirements

                  An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  SlicingThis element introduces a set of slices on Observation.value[x]. The slices areUnordered and Closed, and can be differentiated using the following discriminators:
                  • type @ $this
                  • 68. Observation.value[x]:valueCodeableConcept
                    Slice NamevalueCodeableConcept
                    Definition

                    The presence or absence of the variant described in the components. If not searching for specific variations and merely reporting what's found, the profile's value should be set to 'Present'.

                    ShortIndeterminate | No call | Present | Absent.
                    Comments

                    See here for usage guidance.

                    Control0..1
                    This element is affected by the following invariants: obs-7
                    BindingThe codes SHALL be taken from LOINC Answer List LL1971-2
                    (required to http://loinc.org/vs/LL1971-2)
                    TypeCodeableConcept
                    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                    Is Modifierfalse
                    Summarytrue
                    Requirements

                    An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    70. Observation.dataAbsentReason
                    Definition

                    Provides a reason why the expected value in the element Observation.value[x] is missing.

                    ShortWhy the result is missing
                    Comments

                    Null or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "specimen unsatisfactory".

                    The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Note that an observation may only be reported if there are values to report. For example differential cell counts values may be reported only when > 0. Because of these options, use-case agreements are required to interpret general observations for null or exceptional values.

                    Control0..1
                    This element is affected by the following invariants: obs-6
                    BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                    (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                    Codes specifying why the result (Observation.value[x]) is missing.

                    TypeCodeableConcept
                    Is Modifierfalse
                    Summaryfalse
                    Requirements

                    For many results it is necessary to handle exceptional values in measurements.

                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    72. Observation.interpretation
                    Definition

                    A categorical assessment of an observation value. For example, high, low, normal.

                    ShortHigh, low, normal, etc.
                    Comments

                    Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                    Control0..*
                    BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                    (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                    Codes identifying interpretations of observations.

                    TypeCodeableConcept
                    Is Modifierfalse
                    Summaryfalse
                    Requirements

                    For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                    Alternate NamesAbnormal Flag
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    74. Observation.note
                    Definition

                    A text note which also contains information about who made the statement and when.

                    ShortComments about the Observation that also contain a coded type
                    Comments

                    May include general statements about the observation, or statements about significant, unexpected or unreliable results values, or information about its source when relevant to its interpretation. The CodedAnnotation data type, while not allowing for or intending to make the content computable, does allow the author to indicate the type of note. This does not replace the use of interpretation, value, or component values. One important note is that Annotation is a FHIR data type, this is NOT about annotations in the genomic context.

                    Control0..*
                    This element is affected by the following invariants: ele-1
                    TypeAnnotation(Coded Annotation)
                    Is Modifierfalse
                    Requirements

                    Need to be able to provide free text additional information. Notes SHALL NOT contain information which can be captured in a structured way.

                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    76. Observation.bodySite
                    Definition

                    Indicates the site on the subject's body where the observation was made (i.e. the target site).

                    ShortObserved body part
                    Comments

                    Only used if not implicit in code found in Observation.code. In many systems, this may be represented as a related observation instead of an inline component.

                    If the use case requires BodySite to be handled as a separate resource (e.g. to identify and track separately) then use the standard extension bodySite.

                    Control0..1
                    BindingFor example codes, see SNOMEDCTBodyStructures
                    (example to http://hl7.org/fhir/ValueSet/body-site)

                    Codes describing anatomical locations. May include laterality.

                    TypeCodeableConcept
                    Is Modifierfalse
                    Summaryfalse
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    78. Observation.method
                    Definition

                    Die verwendete Untersuchungsmethode

                    ShortMethode
                    Comments

                    Only used if not implicit in code for Observation.code.

                    Control0..1
                    BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL4048-6
                    (extensible to http://loinc.org/vs/LL4048-6)
                    TypeCodeableConcept
                    Is Modifierfalse
                    Must Supporttrue
                    Summaryfalse
                    Requirements

                    In some cases, method can impact results and is thus used for determining whether results can be compared or determining significance of results.

                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    80. Observation.specimen
                    Definition

                    Die untersuchte Probe

                    ShortProbe
                    Comments

                    Should only be used if not implicit in code found in Observation.code. Observations are not made on specimens themselves; they are made on a subject, but in many cases by the means of a specimen. Note that although specimens are often involved, they are not always tracked and reported explicitly. Also note that observation resources may be used in contexts that track the specimen explicitly (e.g. Diagnostic Report).

                    Control0..1
                    TypeReference(Specimen)
                    Is Modifierfalse
                    Must Supporttrue
                    Summaryfalse
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    82. Observation.device
                    Definition

                    Das verwendete Analysegerät

                    ShortGerät
                    Comments

                    Note that this is not meant to represent a device involved in the transmission of the result, e.g., a gateway. Such devices may be documented using the Provenance resource where relevant.

                    Control0..1
                    TypeReference(Device, DeviceMetric)
                    Is Modifierfalse
                    Must Supporttrue
                    Must Support TypesNo must-support rules about the choice of types/profiles
                    Summaryfalse
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    84. Observation.referenceRange
                    Definition

                    Guidance on how to interpret the value by comparison to a normal or recommended range. Multiple reference ranges are interpreted as an "OR". In other words, to represent two distinct target populations, two referenceRange elements would be used.

                    ShortProvides guide for interpretation
                    Comments

                    Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                    Control0..*
                    TypeBackboneElement
                    Is Modifierfalse
                    Summaryfalse
                    Requirements

                    Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    obs-3: Must have at least a low or a high or text (low.exists() or high.exists() or text.exists())
                    86. Observation.referenceRange.id
                    Definition

                    Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                    ShortUnique id for inter-element referencing
                    Control0..1
                    Typestring
                    Is Modifierfalse
                    XML FormatIn the XML format, this property is represented as an attribute.
                    Summaryfalse
                    88. Observation.referenceRange.extension
                    Definition

                    May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                    ShortAdditional content defined by implementations
                    Comments

                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                    Control0..*
                    TypeExtension
                    Is Modifierfalse
                    Summaryfalse
                    Alternate Namesextensions, user content
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                    90. Observation.referenceRange.modifierExtension
                    Definition

                    May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                    Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                    ShortExtensions that cannot be ignored even if unrecognized
                    Comments

                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                    Control0..*
                    TypeExtension
                    Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                    Summarytrue
                    Requirements

                    Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                    Alternate Namesextensions, user content, modifiers
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                    92. Observation.referenceRange.low
                    Definition

                    The value of the low bound of the reference range. The low bound of the reference range endpoint is inclusive of the value (e.g. reference range is >=5 - <=9). If the low bound is omitted, it is assumed to be meaningless (e.g. reference range is <=2.3).

                    ShortLow Range, if relevant
                    Control0..1
                    This element is affected by the following invariants: obs-3
                    TypeQuantity(SimpleQuantity)
                    Is Modifierfalse
                    Summaryfalse
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    94. Observation.referenceRange.high
                    Definition

                    The value of the high bound of the reference range. The high bound of the reference range endpoint is inclusive of the value (e.g. reference range is >=5 - <=9). If the high bound is omitted, it is assumed to be meaningless (e.g. reference range is >= 2.3).

                    ShortHigh Range, if relevant
                    Control0..1
                    This element is affected by the following invariants: obs-3
                    TypeQuantity(SimpleQuantity)
                    Is Modifierfalse
                    Summaryfalse
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    96. Observation.referenceRange.type
                    Definition

                    Codes to indicate the what part of the targeted reference population it applies to. For example, the normal or therapeutic range.

                    ShortReference range qualifier
                    Comments

                    This SHOULD be populated if there is more than one range. If this element is not present then the normal range is assumed.

                    Control0..1
                    BindingThe codes SHOULD be taken from ObservationReferenceRangeMeaningCodes
                    (preferred to http://hl7.org/fhir/ValueSet/referencerange-meaning)

                    Code for the meaning of a reference range.

                    TypeCodeableConcept
                    Is Modifierfalse
                    Summaryfalse
                    Requirements

                    Need to be able to say what kind of reference range this is - normal, recommended, therapeutic, etc., - for proper interpretation.

                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    98. Observation.referenceRange.appliesTo
                    Definition

                    Codes to indicate the target population this reference range applies to. For example, a reference range may be based on the normal population or a particular sex or race. Multiple appliesTo are interpreted as an "AND" of the target populations. For example, to represent a target population of African American females, both a code of female and a code for African American would be used.

                    ShortReference range population
                    Comments

                    This SHOULD be populated if there is more than one range. If this element is not present then the normal population is assumed.

                    Control0..*
                    BindingFor example codes, see ObservationReferenceRangeAppliesToCodes
                    (example to http://hl7.org/fhir/ValueSet/referencerange-appliesto)

                    Codes identifying the population the reference range applies to.

                    TypeCodeableConcept
                    Is Modifierfalse
                    Summaryfalse
                    Requirements

                    Need to be able to identify the target population for proper interpretation.

                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    100. Observation.referenceRange.age
                    Definition

                    The age at which this reference range is applicable. This is a neonatal age (e.g. number of weeks at term) if the meaning says so.

                    ShortApplicable age range, if relevant
                    Control0..1
                    TypeRange
                    Is Modifierfalse
                    Summaryfalse
                    Requirements

                    Some analytes vary greatly over age.

                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    102. Observation.referenceRange.text
                    Definition

                    Text based reference range in an observation which may be used when a quantitative range is not appropriate for an observation. An example would be a reference value of "Negative" or a list or table of "normals".

                    ShortText based reference range in an observation
                    Control0..1
                    Typestring
                    Is Modifierfalse
                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                    Summaryfalse
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    104. Observation.hasMember
                    Definition

                    This observation is a group observation (e.g. a battery, a panel of tests, a set of vital sign measurements) that includes the target as a member of the group.

                    ShortRelated resource that belongs to the Observation group
                    Comments

                    When using this element, an observation will typically have either a value or a set of related resources, although both may be present in some cases. For a discussion on the ways Observations can assembled in groups together, see Notes below. Note that a system may calculate results from QuestionnaireResponse into a final score and represent the score as an Observation.

                    Control0..*
                    TypeReference(Observation, QuestionnaireResponse, MolecularSequence)
                    Is Modifierfalse
                    Summarytrue
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    106. Observation.derivedFrom
                    Definition

                    The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

                    ShortRelated measurements the observation is made from
                    Comments

                    All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

                    Control0..*
                    TypeReference(DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence)
                    Is Modifierfalse
                    Summarytrue
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    SlicingThis element introduces a set of slices on Observation.derivedFrom. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                    • profile @ resolve()
                    • 108. Observation.component
                      Definition

                      Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                      ShortComponent results
                      Comments

                      For a discussion on the ways Observations can be assembled in groups together see Notes below.

                      Control0..*
                      TypeBackboneElement
                      Is Modifierfalse
                      Summarytrue
                      Requirements

                      Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      SlicingThis element introduces a set of slices on Observation.component. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                      • value @ code
                      • 110. Observation.component.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        112. Observation.component.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        114. Observation.component.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        116. Observation.component.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        ShortType of component observation (code / type)
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        118. Observation.component.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortActual component result
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control0..1
                        TypeChoice of: Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        120. Observation.component.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        122. Observation.component.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        124. Observation.component.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        126. Observation.component:conclusion-string
                        Slice Nameconclusion-string
                        Definition

                        Textuelle Zusammenfassung oder Schlussfolgerung zur Variante

                        ShortSchlussfolgerung - Text
                        Comments

                        An example would be the interpretative information, typically canned, about a variant identified in the patient.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Need to be able to provide a conclusion that is not lost among the basic result data.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        128. Observation.component:conclusion-string.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        130. Observation.component:conclusion-string.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        132. Observation.component:conclusion-string.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        134. Observation.component:conclusion-string.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Shortconclusion-string
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                            "code" : "conclusion-string"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        136. Observation.component:conclusion-string.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortSummary conclusion (interpretation/impression)
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control0..1
                        Typestring
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        138. Observation.component:conclusion-string.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        140. Observation.component:conclusion-string.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        142. Observation.component:conclusion-string.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        144. Observation.component:gene-studied
                        Slice Namegene-studied
                        Definition

                        Das untersuchte Gen identifiziert durch HGNC-ID

                        ShortUntersuchtes Gen
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..*
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        146. Observation.component:gene-studied.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        148. Observation.component:gene-studied.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        150. Observation.component:gene-studied.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        152. Observation.component:gene-studied.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short48018-6
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "48018-6"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        154. Observation.component:gene-studied.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortThe HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        BindingUnless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC)
                        (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs)
                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        156. Observation.component:gene-studied.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        158. Observation.component:gene-studied.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        160. Observation.component:gene-studied.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        162. Observation.component:cytogenetic-location
                        Slice Namecytogenetic-location
                        Definition

                        Chromosomale Position der Variante in Bandennomenklatur

                        ShortZytogenetische Lokalisation
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..*
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        164. Observation.component:cytogenetic-location.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        166. Observation.component:cytogenetic-location.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        168. Observation.component:cytogenetic-location.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        170. Observation.component:cytogenetic-location.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short48001-2
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "48001-2"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        172. Observation.component:cytogenetic-location.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortExample: 1q21.1
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        174. Observation.component:cytogenetic-location.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        176. Observation.component:cytogenetic-location.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        178. Observation.component:cytogenetic-location.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        180. Observation.component:reference-sequence-assembly
                        Slice Namereference-sequence-assembly
                        Definition

                        Die verwendete Referenzgenom-Version wie z.B. GRCh37 oder GRCh38

                        ShortReferenzgenom-Assembly
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..*
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        182. Observation.component:reference-sequence-assembly.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        184. Observation.component:reference-sequence-assembly.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        186. Observation.component:reference-sequence-assembly.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        188. Observation.component:reference-sequence-assembly.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short62374-4
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "62374-4"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        190. Observation.component:reference-sequence-assembly.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortGRCh37 | GRCh38 | ...
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL1040-6
                        (extensible to http://loinc.org/vs/LL1040-6)
                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        192. Observation.component:reference-sequence-assembly.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        194. Observation.component:reference-sequence-assembly.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        196. Observation.component:reference-sequence-assembly.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        198. Observation.component:chromosome-identifier
                        Slice Namechromosome-identifier
                        Definition

                        Das betroffene Chromosom

                        ShortChromosom
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..*
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        200. Observation.component:chromosome-identifier.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        202. Observation.component:chromosome-identifier.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        204. Observation.component:chromosome-identifier.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        206. Observation.component:chromosome-identifier.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short48000-4
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "48000-4"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        208. Observation.component:chromosome-identifier.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortChromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        BindingThe codes SHALL be taken from LOINC Answer List LL2938-0
                        (required to http://loinc.org/vs/LL2938-0)
                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        210. Observation.component:chromosome-identifier.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        212. Observation.component:chromosome-identifier.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        214. Observation.component:chromosome-identifier.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        216. Observation.component:representative-coding-hgvs
                        Slice Namerepresentative-coding-hgvs
                        Definition

                        Die cDNA-Änderung in HGVS-Nomenklatur auf Transkriptebene

                        ShortDNA-Änderung c.HGVS
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        218. Observation.component:representative-coding-hgvs.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        220. Observation.component:representative-coding-hgvs.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        222. Observation.component:representative-coding-hgvs.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        224. Observation.component:representative-coding-hgvs.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short48004-6
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "48004-6"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        226. Observation.component:representative-coding-hgvs.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortA valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        BindingThe codes SHALL be taken from Human Genome Variation Society (HGVS) Nomenclature
                        (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        228. Observation.component:representative-coding-hgvs.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        230. Observation.component:representative-coding-hgvs.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        232. Observation.component:representative-coding-hgvs.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        234. Observation.component:genomic-hgvs
                        Slice Namegenomic-hgvs
                        Definition

                        Die genomische DNA-Änderung in HGVS-Nomenklatur

                        ShortGenomische DNA-Änderung g.HGVS
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        236. Observation.component:genomic-hgvs.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        238. Observation.component:genomic-hgvs.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        240. Observation.component:genomic-hgvs.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        242. Observation.component:genomic-hgvs.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short81290-9
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "81290-9"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        244. Observation.component:genomic-hgvs.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortA valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        BindingThe codes SHALL be taken from Human Genome Variation Society (HGVS) Nomenclature
                        (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        246. Observation.component:genomic-hgvs.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        248. Observation.component:genomic-hgvs.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        250. Observation.component:genomic-hgvs.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        252. Observation.component:cytogenomic-nomenclature
                        Slice Namecytogenomic-nomenclature
                        Definition

                        Fully describes a variant with a single code. Typically a large variant such as a mosaic, abnormal chromosome numbers, etc.

                        ShortCytogenomic Nomenclature (ISCN)
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        254. Observation.component:cytogenomic-nomenclature.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        256. Observation.component:cytogenomic-nomenclature.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        258. Observation.component:cytogenomic-nomenclature.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        260. Observation.component:cytogenomic-nomenclature.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short81291-7
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "81291-7"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        262. Observation.component:cytogenomic-nomenclature.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortActual component result
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        Binding

                        Binding not yet defined

                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        264. Observation.component:cytogenomic-nomenclature.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        266. Observation.component:cytogenomic-nomenclature.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        268. Observation.component:cytogenomic-nomenclature.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        270. Observation.component:genomic-ref-seq
                        Slice Namegenomic-ref-seq
                        Definition

                        Die genomische Referenzsequenz-ID wie z.B. NC_000007.14

                        ShortGenomische Referenzsequenz
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        272. Observation.component:genomic-ref-seq.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        274. Observation.component:genomic-ref-seq.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        276. Observation.component:genomic-ref-seq.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        278. Observation.component:genomic-ref-seq.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short48013-7
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "48013-7"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        280. Observation.component:genomic-ref-seq.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortVersioned genomic reference sequence identifier
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        Binding

                        Multiple bindings acceptable (NCBI or LRG)

                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        282. Observation.component:genomic-ref-seq.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        284. Observation.component:genomic-ref-seq.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        286. Observation.component:genomic-ref-seq.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        288. Observation.component:representative-protein-ref-seq
                        Slice Namerepresentative-protein-ref-seq
                        Definition

                        ID of the protein reference sequence, which includes transcribed and non transcribed stretches. It covers the entire protein described.

                        ShortProtein Reference Sequence
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        290. Observation.component:representative-protein-ref-seq.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        292. Observation.component:representative-protein-ref-seq.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        294. Observation.component:representative-protein-ref-seq.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        296. Observation.component:representative-protein-ref-seq.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Shortprotein-ref-seq
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                            "code" : "protein-ref-seq"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        298. Observation.component:representative-protein-ref-seq.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortVersioned protein reference sequence identifier
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        Binding

                        Multiple bindings acceptable (NCBI or LRG)

                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        300. Observation.component:representative-protein-ref-seq.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        302. Observation.component:representative-protein-ref-seq.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        304. Observation.component:representative-protein-ref-seq.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        306. Observation.component:representative-transcript-ref-seq
                        Slice Namerepresentative-transcript-ref-seq
                        Definition

                        Die Transkript-Referenzsequenz-ID wie z.B. NM_004333.4

                        ShortTranskript-Referenzsequenz
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        308. Observation.component:representative-transcript-ref-seq.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        310. Observation.component:representative-transcript-ref-seq.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        312. Observation.component:representative-transcript-ref-seq.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        314. Observation.component:representative-transcript-ref-seq.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short51958-7
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "51958-7"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        316. Observation.component:representative-transcript-ref-seq.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortVersioned transcript reference sequence identifier
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        Binding

                        Multiple bindings acceptable (NCBI or LRG)

                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        318. Observation.component:representative-transcript-ref-seq.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        320. Observation.component:representative-transcript-ref-seq.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        322. Observation.component:representative-transcript-ref-seq.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        324. Observation.component:exact-start-end
                        Slice Nameexact-start-end
                        Definition

                        Die exakten genomischen Koordinaten der Variante - Start und Ende

                        ShortExakte Start-End-Position
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        326. Observation.component:exact-start-end.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        328. Observation.component:exact-start-end.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        330. Observation.component:exact-start-end.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        332. Observation.component:exact-start-end.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short81254-5
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "81254-5"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        334. Observation.component:exact-start-end.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortRange in question. 'High' can be omitted for single nucleotide variants.
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control0..1
                        TypeRange
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        336. Observation.component:exact-start-end.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        338. Observation.component:exact-start-end.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        340. Observation.component:exact-start-end.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        342. Observation.component:inner-start-end
                        Slice Nameinner-start-end
                        Definition

                        Der innere Bereich bei strukturellen Varianten

                        ShortInnere Start-End-Position
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        344. Observation.component:inner-start-end.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        346. Observation.component:inner-start-end.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        348. Observation.component:inner-start-end.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        350. Observation.component:inner-start-end.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short81302-2
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "81302-2"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        352. Observation.component:inner-start-end.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortImprecise variant inner-bounding range
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control0..1
                        TypeRange
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        354. Observation.component:inner-start-end.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        356. Observation.component:inner-start-end.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        358. Observation.component:inner-start-end.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        360. Observation.component:outer-start-end
                        Slice Nameouter-start-end
                        Definition

                        Der äußere Bereich bei strukturellen Varianten

                        ShortÄußere Start-End-Position
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        362. Observation.component:outer-start-end.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        364. Observation.component:outer-start-end.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        366. Observation.component:outer-start-end.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        368. Observation.component:outer-start-end.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short81301-4
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "81301-4"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        370. Observation.component:outer-start-end.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortImprecise variant outer-bounding range
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control0..1
                        TypeRange
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        372. Observation.component:outer-start-end.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        374. Observation.component:outer-start-end.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        376. Observation.component:outer-start-end.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        378. Observation.component:coordinate-system
                        Slice Namecoordinate-system
                        Definition

                        These are different ways of identifying nucleotides or amino acids within a sequence. In the 1-based system, the first unit of the polymer (e.g. the first nucleotide) is counted as number 1. In the 0-based system, the number 0 designates the location before the first nucleotide. Different databases and file types may use different systems.

                        ShortCoordinate System
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        380. Observation.component:coordinate-system.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        382. Observation.component:coordinate-system.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        384. Observation.component:coordinate-system.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        386. Observation.component:coordinate-system.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short92822-6
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "92822-6"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        388. Observation.component:coordinate-system.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        Short0-based interval counting | 0-based character counting | 1-based character counting
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL5323-2
                        (extensible to http://loinc.org/vs/LL5323-2)
                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        390. Observation.component:coordinate-system.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        392. Observation.component:coordinate-system.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        394. Observation.component:coordinate-system.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        396. Observation.component:ref-allele
                        Slice Nameref-allele
                        Definition

                        Die Nukleotidsequenz des Referenz-Allels

                        ShortReferenz-Allel
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        398. Observation.component:ref-allele.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        400. Observation.component:ref-allele.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        402. Observation.component:ref-allele.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        404. Observation.component:ref-allele.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short69547-8
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "69547-8"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        406. Observation.component:ref-allele.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortNormalized string per the VCF format.
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control0..1
                        Typestring
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        408. Observation.component:ref-allele.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        410. Observation.component:ref-allele.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        412. Observation.component:ref-allele.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        414. Observation.component:alt-allele
                        Slice Namealt-allele
                        Definition

                        Die Nukleotidsequenz des alternativen - mutierten - Allels

                        ShortAlternatives Allel
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        416. Observation.component:alt-allele.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        418. Observation.component:alt-allele.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        420. Observation.component:alt-allele.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        422. Observation.component:alt-allele.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short69551-0
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "69551-0"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        424. Observation.component:alt-allele.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortNormalized string per the VCF format.
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control0..1
                        Typestring
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        426. Observation.component:alt-allele.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        428. Observation.component:alt-allele.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        430. Observation.component:alt-allele.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        432. Observation.component:coding-change-type
                        Slice Namecoding-change-type
                        Definition

                        Der Typ der DNA-Änderung wie z.B. Substitution oder Deletion

                        ShortDNA-Änderungstyp
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        434. Observation.component:coding-change-type.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        436. Observation.component:coding-change-type.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        438. Observation.component:coding-change-type.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        440. Observation.component:coding-change-type.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short48019-4
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "48019-4"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        442. Observation.component:coding-change-type.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        Shortdeletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        BindingUnless not suitable, these codes SHALL be taken from DNA Change Type
                        (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs)

                        Concepts in sequence ontology under SO:0002072

                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        444. Observation.component:coding-change-type.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        446. Observation.component:coding-change-type.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        448. Observation.component:coding-change-type.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        450. Observation.component:genomic-source-class
                        Slice Namegenomic-source-class
                        Definition

                        Die Herkunft der Variante wie z.B. somatisch oder Keimbahn

                        ShortGenomische Herkunftsklasse
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        452. Observation.component:genomic-source-class.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        454. Observation.component:genomic-source-class.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        456. Observation.component:genomic-source-class.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        458. Observation.component:genomic-source-class.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short48002-0
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "48002-0"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        460. Observation.component:genomic-source-class.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortGermline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control1..1
                        BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL378-1
                        (extensible to http://loinc.org/vs/LL378-1)
                        TypeCodeableConcept
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        462. Observation.component:genomic-source-class.dataAbsentReason
                        Definition

                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                        ShortWhy the component result is missing
                        Comments

                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                        Control0..1
                        This element is affected by the following invariants: obs-6
                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                        Codes specifying why the result (Observation.value[x]) is missing.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For many results it is necessary to handle exceptional values in measurements.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        464. Observation.component:genomic-source-class.interpretation
                        Definition

                        A categorical assessment of an observation value. For example, high, low, normal.

                        ShortHigh, low, normal, etc.
                        Comments

                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                        Control0..*
                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                        Codes identifying interpretations of observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                        Alternate NamesAbnormal Flag
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        466. Observation.component:genomic-source-class.referenceRange
                        Definition

                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                        ShortProvides guide for interpretation of component result
                        Comments

                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                        Control0..*
                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                        Is Modifierfalse
                        Summaryfalse
                        Requirements

                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        468. Observation.component:sample-allelic-frequency
                        Slice Namesample-allelic-frequency
                        Definition

                        Die Häufigkeit des varianten Allels in der untersuchten Probe

                        ShortAllelfrequenz in der Probe
                        Comments

                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                        Control0..1
                        TypeBackboneElement
                        Is Modifierfalse
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        470. Observation.component:sample-allelic-frequency.id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        472. Observation.component:sample-allelic-frequency.extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        474. Observation.component:sample-allelic-frequency.modifierExtension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                        ShortExtensions that cannot be ignored even if unrecognized
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                        Summarytrue
                        Requirements

                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                        Alternate Namesextensions, user content, modifiers
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        476. Observation.component:sample-allelic-frequency.code
                        Definition

                        Describes what was observed. Sometimes this is called the observation "code".

                        Short81258-6
                        Comments

                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                        Control1..1
                        BindingFor example codes, see LOINCCodes
                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                        Codes identifying names of simple observations.

                        TypeCodeableConcept
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        Knowing what kind of observation is being made is essential to understanding the observation.

                        Pattern Value{
                          "coding" : [{
                            "system" : "http://loinc.org",
                            "code" : "81258-6"
                          }]
                        }
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        478. Observation.component:sample-allelic-frequency.value[x]
                        Definition

                        The information determined as a result of making the observation, if the information has a simple value.

                        ShortRelative frequency in the sample
                        Comments

                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                        Control0..1
                        TypeQuantity
                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                        Is Modifierfalse
                        Summarytrue
                        Requirements

                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        480. Observation.component:sample-allelic-frequency.value[x].id
                        Definition

                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                        ShortUnique id for inter-element referencing
                        Control0..1
                        Typestring
                        Is Modifierfalse
                        XML FormatIn the XML format, this property is represented as an attribute.
                        Summaryfalse
                        482. Observation.component:sample-allelic-frequency.value[x].extension
                        Definition

                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                        ShortAdditional content defined by implementations
                        Comments

                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                        Control0..*
                        TypeExtension
                        Is Modifierfalse
                        Summaryfalse
                        Alternate Namesextensions, user content
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                        SlicingThis element introduces a set of slices on Observation.component.value[x].extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                        • value @ url
                        • 484. Observation.component:sample-allelic-frequency.value[x].value
                          Definition

                          The value of the measured amount. The value includes an implicit precision in the presentation of the value.

                          ShortNumerical value (with implicit precision)
                          Comments

                          The implicit precision in the value should always be honored. Monetary values have their own rules for handling precision (refer to standard accounting text books).

                          Control0..1
                          Typedecimal
                          Is Modifierfalse
                          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                          Summarytrue
                          Requirements

                          Precision is handled implicitly in almost all cases of measurement.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          486. Observation.component:sample-allelic-frequency.value[x].comparator
                          Definition

                          How the value should be understood and represented - whether the actual value is greater or less than the stated value due to measurement issues; e.g. if the comparator is "<" , then the real value is < stated value.

                          Short< | <= | >= | > - how to understand the value
                          Control0..1
                          BindingThe codes SHALL be taken from QuantityComparator
                          (required to http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1)

                          How the Quantity should be understood and represented.

                          Typecode
                          Is Modifiertrue because This is labeled as "Is Modifier" because the comparator modifies the interpretation of the value significantly. If there is no comparator, then there is no modification of the value
                          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                          Summarytrue
                          Requirements

                          Need a framework for handling measures where the value is <5ug/L or >400mg/L due to the limitations of measuring methodology.

                          Meaning if MissingIf there is no comparator, then there is no modification of the value
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          488. Observation.component:sample-allelic-frequency.value[x].unit
                          Definition

                          A human-readable form of the unit.

                          ShortUnit representation
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                          Summarytrue
                          Requirements

                          There are many representations for units of measure and in many contexts, particular representations are fixed and required. I.e. mcg for micrograms.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          490. Observation.component:sample-allelic-frequency.value[x].system
                          Definition

                          The identification of the system that provides the coded form of the unit.

                          ShortSystem that defines coded unit form
                          Control0..1
                          This element is affected by the following invariants: qty-3
                          Typeuri
                          Is Modifierfalse
                          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                          Summarytrue
                          Requirements

                          Need to know the system that defines the coded form of the unit.

                          Pattern Valuehttp://unitsofmeasure.org
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          492. Observation.component:sample-allelic-frequency.value[x].code
                          Definition

                          A computer processable form of the unit in some unit representation system.

                          ShortCoded form of the unit
                          Comments

                          The preferred system is UCUM, but SNOMED CT can also be used (for customary units) or ISO 4217 for currency. The context of use may additionally require a code from a particular system.

                          Control0..1
                          Typecode
                          Is Modifierfalse
                          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                          Summarytrue
                          Requirements

                          Need a computable form of the unit that is fixed across all forms. UCUM provides this for quantities, but SNOMED CT provides many units of interest.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          494. Observation.component:sample-allelic-frequency.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in measurements.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          496. Observation.component:sample-allelic-frequency.interpretation
                          Definition

                          A categorical assessment of an observation value. For example, high, low, normal.

                          ShortHigh, low, normal, etc.
                          Comments

                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                          Control0..*
                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                          Codes identifying interpretations of observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                          Alternate NamesAbnormal Flag
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          498. Observation.component:sample-allelic-frequency.referenceRange
                          Definition

                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                          ShortProvides guide for interpretation of component result
                          Comments

                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                          Control0..*
                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          500. Observation.component:allelic-read-depth
                          Slice Nameallelic-read-depth
                          Definition

                          Die Anzahl der Reads die das Allel unterstützen

                          ShortAllelische Lesetiefe
                          Comments

                          See here for usage guidance.

                          Control0..1
                          TypeBackboneElement
                          Is Modifierfalse
                          Must Supporttrue
                          Summarytrue
                          Requirements

                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          502. Observation.component:allelic-read-depth.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          504. Observation.component:allelic-read-depth.extension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                          ShortAdditional content defined by implementations
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifierfalse
                          Summaryfalse
                          Alternate Namesextensions, user content
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          506. Observation.component:allelic-read-depth.modifierExtension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                          ShortExtensions that cannot be ignored even if unrecognized
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                          Summarytrue
                          Requirements

                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                          Alternate Namesextensions, user content, modifiers
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          508. Observation.component:allelic-read-depth.code
                          Definition

                          Describes what was observed. Sometimes this is called the observation "code".

                          Short82121-5
                          Comments

                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                          Control1..1
                          BindingFor example codes, see LOINCCodes
                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                          Codes identifying names of simple observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          Knowing what kind of observation is being made is essential to understanding the observation.

                          Pattern Value{
                            "coding" : [{
                              "system" : "http://loinc.org",
                              "code" : "82121-5"
                            }]
                          }
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          510. Observation.component:allelic-read-depth.value[x]
                          Definition

                          The information determined as a result of making the observation, if the information has a simple value.

                          ShortUnfiltered count of supporting reads
                          Comments

                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                          Control0..1
                          TypeQuantity
                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          512. Observation.component:allelic-read-depth.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in measurements.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          514. Observation.component:allelic-read-depth.interpretation
                          Definition

                          A categorical assessment of an observation value. For example, high, low, normal.

                          ShortHigh, low, normal, etc.
                          Comments

                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                          Control0..*
                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                          Codes identifying interpretations of observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                          Alternate NamesAbnormal Flag
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          516. Observation.component:allelic-read-depth.referenceRange
                          Definition

                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                          ShortProvides guide for interpretation of component result
                          Comments

                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                          Control0..*
                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          518. Observation.component:allelic-state
                          Slice Nameallelic-state
                          Definition

                          Der Allelstatus wie z.B. heterozygot oder homozygot

                          ShortAllelstatus
                          Comments

                          For a discussion on the ways Observations can be assembled in groups together see Notes below.

                          Control0..1
                          TypeBackboneElement
                          Is Modifierfalse
                          Must Supporttrue
                          Summarytrue
                          Requirements

                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          520. Observation.component:allelic-state.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          522. Observation.component:allelic-state.extension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                          ShortAdditional content defined by implementations
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifierfalse
                          Summaryfalse
                          Alternate Namesextensions, user content
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          524. Observation.component:allelic-state.modifierExtension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                          ShortExtensions that cannot be ignored even if unrecognized
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                          Summarytrue
                          Requirements

                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                          Alternate Namesextensions, user content, modifiers
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          526. Observation.component:allelic-state.code
                          Definition

                          Describes what was observed. Sometimes this is called the observation "code".

                          Short53034-5
                          Comments

                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                          Control1..1
                          BindingFor example codes, see LOINCCodes
                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                          Codes identifying names of simple observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          Knowing what kind of observation is being made is essential to understanding the observation.

                          Pattern Value{
                            "coding" : [{
                              "system" : "http://loinc.org",
                              "code" : "53034-5"
                            }]
                          }
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          528. Observation.component:allelic-state.value[x]
                          Definition

                          The information determined as a result of making the observation, if the information has a simple value.

                          ShortHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
                          Comments

                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                          Control1..1
                          BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL381-5
                          (extensible to http://loinc.org/vs/LL381-5)
                          TypeCodeableConcept
                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          530. Observation.component:allelic-state.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in measurements.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          532. Observation.component:allelic-state.interpretation
                          Definition

                          A categorical assessment of an observation value. For example, high, low, normal.

                          ShortHigh, low, normal, etc.
                          Comments

                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                          Control0..*
                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                          Codes identifying interpretations of observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                          Alternate NamesAbnormal Flag
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          534. Observation.component:allelic-state.referenceRange
                          Definition

                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                          ShortProvides guide for interpretation of component result
                          Comments

                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                          Control0..*
                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          536. Observation.component:variant-inheritance
                          Slice Namevariant-inheritance
                          Definition

                          Die Vererbungsart der Variante wie z.B. maternal oder paternal

                          ShortVarianten-Vererbung
                          Comments

                          For a discussion on the ways Observations can be assembled in groups together see Notes below.

                          Control0..1
                          TypeBackboneElement
                          Is Modifierfalse
                          Must Supporttrue
                          Summarytrue
                          Requirements

                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          538. Observation.component:variant-inheritance.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          540. Observation.component:variant-inheritance.extension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                          ShortAdditional content defined by implementations
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifierfalse
                          Summaryfalse
                          Alternate Namesextensions, user content
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          542. Observation.component:variant-inheritance.modifierExtension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                          ShortExtensions that cannot be ignored even if unrecognized
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                          Summarytrue
                          Requirements

                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                          Alternate Namesextensions, user content, modifiers
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          544. Observation.component:variant-inheritance.code
                          Definition

                          Describes what was observed. Sometimes this is called the observation "code".

                          Short94186-4
                          Comments

                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                          Control1..1
                          BindingFor example codes, see LOINCCodes
                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                          Codes identifying names of simple observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          Knowing what kind of observation is being made is essential to understanding the observation.

                          Pattern Value{
                            "coding" : [{
                              "system" : "http://loinc.org",
                              "code" : "94186-4"
                            }]
                          }
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          546. Observation.component:variant-inheritance.value[x]
                          Definition

                          The information determined as a result of making the observation, if the information has a simple value.

                          ShortMaternal | Paternal | Unknown
                          Comments

                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                          Control1..1
                          BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL5489-1
                          (extensible to http://loinc.org/vs/LL5489-1)
                          TypeCodeableConcept
                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          548. Observation.component:variant-inheritance.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in measurements.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          550. Observation.component:variant-inheritance.interpretation
                          Definition

                          A categorical assessment of an observation value. For example, high, low, normal.

                          ShortHigh, low, normal, etc.
                          Comments

                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                          Control0..*
                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                          Codes identifying interpretations of observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                          Alternate NamesAbnormal Flag
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          552. Observation.component:variant-inheritance.referenceRange
                          Definition

                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                          ShortProvides guide for interpretation of component result
                          Comments

                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                          Control0..*
                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          554. Observation.component:variant-inheritance-basis
                          Slice Namevariant-inheritance-basis
                          Definition

                          The method by which the variant inheritance is determined.

                          ShortEvidential basis for variant inheritance
                          Comments

                          For a discussion on the ways Observations can be assembled in groups together see Notes below.

                          Control0..1
                          TypeBackboneElement
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          556. Observation.component:variant-inheritance-basis.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          558. Observation.component:variant-inheritance-basis.extension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                          ShortAdditional content defined by implementations
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifierfalse
                          Summaryfalse
                          Alternate Namesextensions, user content
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          560. Observation.component:variant-inheritance-basis.modifierExtension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                          ShortExtensions that cannot be ignored even if unrecognized
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                          Summarytrue
                          Requirements

                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                          Alternate Namesextensions, user content, modifiers
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          562. Observation.component:variant-inheritance-basis.code
                          Definition

                          Describes what was observed. Sometimes this is called the observation "code".

                          ShortBasis for allelic phase
                          Comments

                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                          Control1..1
                          BindingFor example codes, see LOINCCodes
                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                          Codes identifying names of simple observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          Knowing what kind of observation is being made is essential to understanding the observation.

                          Pattern Value{
                            "coding" : [{
                              "system" : "http://loinc.org",
                              "code" : "82309-6"
                            }]
                          }
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          564. Observation.component:variant-inheritance-basis.value[x]
                          Definition

                          The information determined as a result of making the observation, if the information has a simple value.

                          ShortDirectly measured | Family DNA | Family history | Inferred from population data
                          Comments

                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                          Control1..1
                          BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL4050-2
                          (extensible to http://loinc.org/vs/LL4050-2)
                          TypeCodeableConcept
                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          566. Observation.component:variant-inheritance-basis.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in measurements.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          568. Observation.component:variant-inheritance-basis.interpretation
                          Definition

                          A categorical assessment of an observation value. For example, high, low, normal.

                          ShortHigh, low, normal, etc.
                          Comments

                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                          Control0..*
                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                          Codes identifying interpretations of observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                          Alternate NamesAbnormal Flag
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          570. Observation.component:variant-inheritance-basis.referenceRange
                          Definition

                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                          ShortProvides guide for interpretation of component result
                          Comments

                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                          Control0..*
                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          572. Observation.component:variation-code
                          Slice Namevariation-code
                          Definition

                          Eindeutiger Identifikator der Variante aus externen Datenbanken wie z.B. ClinVar oder dbSNP

                          ShortVarianten-Code
                          Comments

                          For a discussion on the ways Observations can be assembled in groups together see Notes below.

                          Control0..*
                          TypeBackboneElement
                          Is Modifierfalse
                          Must Supporttrue
                          Summarytrue
                          Requirements

                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          574. Observation.component:variation-code.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          576. Observation.component:variation-code.extension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                          ShortAdditional content defined by implementations
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifierfalse
                          Summaryfalse
                          Alternate Namesextensions, user content
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          578. Observation.component:variation-code.modifierExtension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                          ShortExtensions that cannot be ignored even if unrecognized
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                          Summarytrue
                          Requirements

                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                          Alternate Namesextensions, user content, modifiers
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          580. Observation.component:variation-code.code
                          Definition

                          Describes what was observed. Sometimes this is called the observation "code".

                          Short81252-9
                          Comments

                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                          Control1..1
                          BindingFor example codes, see LOINCCodes
                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                          Codes identifying names of simple observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          Knowing what kind of observation is being made is essential to understanding the observation.

                          Pattern Value{
                            "coding" : [{
                              "system" : "http://loinc.org",
                              "code" : "81252-9"
                            }]
                          }
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          582. Observation.component:variation-code.value[x]
                          Definition

                          The information determined as a result of making the observation, if the information has a simple value.

                          ShortClinVar ID or similar
                          Comments

                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                          Control1..1
                          Binding

                          Multiple bindings acceptable

                          TypeCodeableConcept
                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          584. Observation.component:variation-code.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in measurements.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          586. Observation.component:variation-code.interpretation
                          Definition

                          A categorical assessment of an observation value. For example, high, low, normal.

                          ShortHigh, low, normal, etc.
                          Comments

                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                          Control0..*
                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                          Codes identifying interpretations of observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                          Alternate NamesAbnormal Flag
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          588. Observation.component:variation-code.referenceRange
                          Definition

                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                          ShortProvides guide for interpretation of component result
                          Comments

                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                          Control0..*
                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          590. Observation.component:representative-protein-hgvs
                          Slice Namerepresentative-protein-hgvs
                          Definition

                          Die Aminosäure-Änderung in HGVS-Nomenklatur auf Proteinebene

                          ShortAminosäure-Änderung p.HGVS
                          Comments

                          For a discussion on the ways Observations can be assembled in groups together see Notes below.

                          Control0..1
                          TypeBackboneElement
                          Is Modifierfalse
                          Must Supporttrue
                          Summarytrue
                          Requirements

                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          592. Observation.component:representative-protein-hgvs.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          594. Observation.component:representative-protein-hgvs.extension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                          ShortAdditional content defined by implementations
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifierfalse
                          Summaryfalse
                          Alternate Namesextensions, user content
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          596. Observation.component:representative-protein-hgvs.modifierExtension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                          ShortExtensions that cannot be ignored even if unrecognized
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                          Summarytrue
                          Requirements

                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                          Alternate Namesextensions, user content, modifiers
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          598. Observation.component:representative-protein-hgvs.code
                          Definition

                          Describes what was observed. Sometimes this is called the observation "code".

                          Short48005-3
                          Comments

                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                          Control1..1
                          BindingFor example codes, see LOINCCodes
                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                          Codes identifying names of simple observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          Knowing what kind of observation is being made is essential to understanding the observation.

                          Pattern Value{
                            "coding" : [{
                              "system" : "http://loinc.org",
                              "code" : "48005-3"
                            }]
                          }
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          600. Observation.component:representative-protein-hgvs.value[x]
                          Definition

                          The information determined as a result of making the observation, if the information has a simple value.

                          ShortA valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)
                          Comments

                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                          Control1..1
                          BindingThe codes SHALL be taken from Human Genome Variation Society (HGVS) Nomenclature
                          (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
                          TypeCodeableConcept
                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          602. Observation.component:representative-protein-hgvs.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in measurements.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          604. Observation.component:representative-protein-hgvs.interpretation
                          Definition

                          A categorical assessment of an observation value. For example, high, low, normal.

                          ShortHigh, low, normal, etc.
                          Comments

                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                          Control0..*
                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                          Codes identifying interpretations of observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                          Alternate NamesAbnormal Flag
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          606. Observation.component:representative-protein-hgvs.referenceRange
                          Definition

                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                          ShortProvides guide for interpretation of component result
                          Comments

                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                          Control0..*
                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          608. Observation.component:copy-number
                          Slice Namecopy-number
                          Definition

                          Die Anzahl der Kopien eines genomischen Abschnitts

                          ShortKopienzahl
                          Comments

                          Copy number variants are often described with a single copy number value. However, due to the nature of assays, such as qPCR and microarray, it can be difficult to assign an exact copy number. Therefore, labs sometimes report a range instead of an exact copy number. They may alternatively choose to report decimal numbers, even if whole numbers are biologically correct.

                          In general, it can be difficult to estimate a copy number from measurements taken on a heterogenous population of cells, such as a tumor. As indicated in the ISCN 2020 specifications, it is appropriate to express the measurements using a range. Furthermore, regardless of cell population, many assays use fluorescent probes to detect copy number. These testing methodologies do not always provide an exact, discrete value for this data point.

                          Control0..1
                          TypeBackboneElement
                          Is Modifierfalse
                          Must Supporttrue
                          Summarytrue
                          Requirements

                          There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          610. Observation.component:copy-number.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          612. Observation.component:copy-number.extension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                          ShortAdditional content defined by implementations
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifierfalse
                          Summaryfalse
                          Alternate Namesextensions, user content
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          614. Observation.component:copy-number.modifierExtension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                          ShortExtensions that cannot be ignored even if unrecognized
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                          Summarytrue
                          Requirements

                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                          Alternate Namesextensions, user content, modifiers
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          616. Observation.component:copy-number.code
                          Definition

                          Describes what was observed. Sometimes this is called the observation "code".

                          Short82155-3
                          Comments

                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                          Control1..1
                          BindingFor example codes, see LOINCCodes
                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                          Codes identifying names of simple observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          Knowing what kind of observation is being made is essential to understanding the observation.

                          Pattern Value{
                            "coding" : [{
                              "system" : "http://loinc.org",
                              "code" : "82155-3"
                            }]
                          }
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          618. Observation.component:copy-number.value[x]
                          Definition

                          The information determined as a result of making the observation, if the information has a simple value.

                          ShortActual component result
                          Comments

                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                          Control0..1
                          TypeChoice of: Quantity, Range
                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          620. Observation.component:copy-number.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in measurements.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          622. Observation.component:copy-number.interpretation
                          Definition

                          A categorical assessment of an observation value. For example, high, low, normal.

                          ShortHigh, low, normal, etc.
                          Comments

                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                          Control0..*
                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                          Codes identifying interpretations of observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                          Alternate NamesAbnormal Flag
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          624. Observation.component:copy-number.referenceRange
                          Definition

                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                          ShortProvides guide for interpretation of component result
                          Comments

                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                          Control0..*
                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          626. Observation.component:variant-confidence-status
                          Slice Namevariant-confidence-status
                          Definition

                          Der Vertrauensstatus der Variantendetektion

                          ShortKonfidenzstatus der Variante
                          Comments

                          See here for usage guidance.

                          Control0..1
                          TypeBackboneElement
                          Is Modifierfalse
                          Must Supporttrue
                          Summarytrue
                          Requirements

                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          628. Observation.component:variant-confidence-status.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          630. Observation.component:variant-confidence-status.extension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                          ShortAdditional content defined by implementations
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifierfalse
                          Summaryfalse
                          Alternate Namesextensions, user content
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          632. Observation.component:variant-confidence-status.modifierExtension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                          ShortExtensions that cannot be ignored even if unrecognized
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          TypeExtension
                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                          Summarytrue
                          Requirements

                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                          Alternate Namesextensions, user content, modifiers
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          634. Observation.component:variant-confidence-status.code
                          Definition

                          Describes what was observed. Sometimes this is called the observation "code".

                          Shortvariant-confidence-status
                          Comments

                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                          Control1..1
                          BindingFor example codes, see LOINCCodes
                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                          Codes identifying names of simple observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          Knowing what kind of observation is being made is essential to understanding the observation.

                          Pattern Value{
                            "coding" : [{
                              "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                              "code" : "variant-confidence-status"
                            }]
                          }
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          636. Observation.component:variant-confidence-status.value[x]
                          Definition

                          The information determined as a result of making the observation, if the information has a simple value.

                          ShortHigh | Intermediate | Low
                          Comments

                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                          Control1..1
                          BindingThe codes SHALL be taken from Variant Confidence Status
                          (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs)
                          TypeCodeableConcept
                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          638. Observation.component:variant-confidence-status.dataAbsentReason
                          Definition

                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                          ShortWhy the component result is missing
                          Comments

                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                          Control0..1
                          This element is affected by the following invariants: obs-6
                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                          Codes specifying why the result (Observation.value[x]) is missing.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For many results it is necessary to handle exceptional values in measurements.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          640. Observation.component:variant-confidence-status.interpretation
                          Definition

                          A categorical assessment of an observation value. For example, high, low, normal.

                          ShortHigh, low, normal, etc.
                          Comments

                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                          Control0..*
                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                          Codes identifying interpretations of observations.

                          TypeCodeableConcept
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                          Alternate NamesAbnormal Flag
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          642. Observation.component:variant-confidence-status.referenceRange
                          Definition

                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                          ShortProvides guide for interpretation of component result
                          Comments

                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                          Control0..*
                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                          Is Modifierfalse
                          Summaryfalse
                          Requirements

                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          644. Observation.component:repeat-motif
                          Slice Namerepeat-motif
                          Definition

                          Nucleotides of a repeat expansion motif.

                          ShortRepeat Motif
                          Comments

                          For a discussion on the ways Observations can be assembled in groups together see Notes below.

                          Control0..*
                          TypeBackboneElement
                          Is Modifierfalse
                          Summarytrue
                          Requirements

                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          646. Observation.component:repeat-motif.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          Is Modifierfalse
                          XML FormatIn the XML format, this property is represented as an attribute.
                          Summaryfalse
                          648. Observation.component:repeat-motif.extension
                          Definition

                          An Extension

                          ShortExtension
                          Control0..*
                          TypeExtension
                          Is Modifierfalse
                          Summaryfalse
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                          • value @ url
                          • 650. Observation.component:repeat-motif.extension:repeat-motif-order
                            Slice Namerepeat-motif-order
                            Definition

                            Use to group and order repeat expansion motifs.

                            ShortRepeat Motif Order
                            Comments

                            If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

                            Control0..1
                            This element is affected by the following invariants: ele-1
                            TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
                            Is Modifierfalse
                            Requirements

                            The value must be a natural number starting from 1 and increasing sequentially

                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                            652. Observation.component:repeat-motif.modifierExtension
                            Definition

                            May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                            Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                            ShortExtensions that cannot be ignored even if unrecognized
                            Comments

                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                            Control0..*
                            TypeExtension
                            Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                            Summarytrue
                            Requirements

                            Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                            Alternate Namesextensions, user content, modifiers
                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                            654. Observation.component:repeat-motif.code
                            Definition

                            Describes what was observed. Sometimes this is called the observation "code".

                            Shortrepeat-motif
                            Comments

                            All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                            Control1..1
                            BindingFor example codes, see LOINCCodes
                            (example to http://hl7.org/fhir/ValueSet/observation-codes)

                            Codes identifying names of simple observations.

                            TypeCodeableConcept
                            Is Modifierfalse
                            Summarytrue
                            Requirements

                            Knowing what kind of observation is being made is essential to understanding the observation.

                            Pattern Value{
                              "coding" : [{
                                "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                                "code" : "repeat-motif"
                              }]
                            }
                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            656. Observation.component:repeat-motif.value[x]
                            Definition

                            The information determined as a result of making the observation, if the information has a simple value.

                            ShortCAG
                            Comments

                            Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                            Control1..1
                            Typestring
                            [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                            Is Modifierfalse
                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                            Summarytrue
                            Requirements

                            An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            658. Observation.component:repeat-motif.dataAbsentReason
                            Definition

                            Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                            ShortWhy the component result is missing
                            Comments

                            "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                            The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                            Control0..1
                            This element is affected by the following invariants: obs-6
                            BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                            (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                            Codes specifying why the result (Observation.value[x]) is missing.

                            TypeCodeableConcept
                            Is Modifierfalse
                            Summaryfalse
                            Requirements

                            For many results it is necessary to handle exceptional values in measurements.

                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            660. Observation.component:repeat-motif.interpretation
                            Definition

                            A categorical assessment of an observation value. For example, high, low, normal.

                            ShortHigh, low, normal, etc.
                            Comments

                            Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                            Control0..*
                            BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                            (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                            Codes identifying interpretations of observations.

                            TypeCodeableConcept
                            Is Modifierfalse
                            Summaryfalse
                            Requirements

                            For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                            Alternate NamesAbnormal Flag
                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            662. Observation.component:repeat-motif.referenceRange
                            Definition

                            Guidance on how to interpret the value by comparison to a normal or recommended range.

                            ShortProvides guide for interpretation of component result
                            Comments

                            Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                            Control0..*
                            TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                            Is Modifierfalse
                            Summaryfalse
                            Requirements

                            Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            664. Observation.component:repeat-number
                            Slice Namerepeat-number
                            Definition

                            Number of repeats of a repeat expansion.

                            ShortRepeat Number
                            Comments

                            For a discussion on the ways Observations can be assembled in groups together see Notes below.

                            Control0..*
                            TypeBackboneElement
                            Is Modifierfalse
                            Summarytrue
                            Requirements

                            Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            666. Observation.component:repeat-number.id
                            Definition

                            Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                            ShortUnique id for inter-element referencing
                            Control0..1
                            Typestring
                            Is Modifierfalse
                            XML FormatIn the XML format, this property is represented as an attribute.
                            Summaryfalse
                            668. Observation.component:repeat-number.extension
                            Definition

                            An Extension

                            ShortExtension
                            Control0..*
                            TypeExtension
                            Is Modifierfalse
                            Summaryfalse
                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                            SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                            • value @ url
                            • 670. Observation.component:repeat-number.extension:repeat-motif-order
                              Slice Namerepeat-motif-order
                              Definition

                              Use to group and order repeat expansion motifs.

                              ShortRepeat Motif Order
                              Comments

                              If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

                              Control0..1
                              This element is affected by the following invariants: ele-1
                              TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
                              Is Modifierfalse
                              Requirements

                              The value must be a natural number starting from 1 and increasing sequentially

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                              672. Observation.component:repeat-number.modifierExtension
                              Definition

                              May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                              Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                              ShortExtensions that cannot be ignored even if unrecognized
                              Comments

                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                              Control0..*
                              TypeExtension
                              Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                              Summarytrue
                              Requirements

                              Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                              Alternate Namesextensions, user content, modifiers
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                              674. Observation.component:repeat-number.code
                              Definition

                              Describes what was observed. Sometimes this is called the observation "code".

                              Shortrepeat-number
                              Comments

                              All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                              Control1..1
                              BindingFor example codes, see LOINCCodes
                              (example to http://hl7.org/fhir/ValueSet/observation-codes)

                              Codes identifying names of simple observations.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summarytrue
                              Requirements

                              Knowing what kind of observation is being made is essential to understanding the observation.

                              Pattern Value{
                                "coding" : [{
                                  "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                                  "code" : "repeat-number"
                                }]
                              }
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              676. Observation.component:repeat-number.value[x]
                              Definition

                              The information determined as a result of making the observation, if the information has a simple value.

                              Short40
                              Comments

                              Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                              Control1..1
                              TypeQuantity
                              [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                              Is Modifierfalse
                              Summarytrue
                              Requirements

                              An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              678. Observation.component:repeat-number.dataAbsentReason
                              Definition

                              Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                              ShortWhy the component result is missing
                              Comments

                              "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                              The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                              Control0..1
                              This element is affected by the following invariants: obs-6
                              BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                              (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                              Codes specifying why the result (Observation.value[x]) is missing.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              For many results it is necessary to handle exceptional values in measurements.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              680. Observation.component:repeat-number.interpretation
                              Definition

                              A categorical assessment of an observation value. For example, high, low, normal.

                              ShortHigh, low, normal, etc.
                              Comments

                              Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                              Control0..*
                              BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                              (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                              Codes identifying interpretations of observations.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                              Alternate NamesAbnormal Flag
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              682. Observation.component:repeat-number.referenceRange
                              Definition

                              Guidance on how to interpret the value by comparison to a normal or recommended range.

                              ShortProvides guide for interpretation of component result
                              Comments

                              Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                              Control0..*
                              TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              684. Observation.component:dna-region
                              Slice Namedna-region
                              Definition

                              Ein lesbarer Name für die untersuchte Region. Typischerweise Exon # oder Intron # oder andere.

                              ShortDNA-Regionsname
                              Comments

                              For a discussion on the ways Observations can be assembled in groups together see Notes below.

                              Control0..*
                              TypeBackboneElement
                              Is Modifierfalse
                              Must Supporttrue
                              Summarytrue
                              Requirements

                              Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              686. Observation.component:dna-region.id
                              Definition

                              Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                              ShortUnique id for inter-element referencing
                              Control0..1
                              Typestring
                              Is Modifierfalse
                              XML FormatIn the XML format, this property is represented as an attribute.
                              Summaryfalse
                              688. Observation.component:dna-region.extension
                              Definition

                              May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                              ShortAdditional content defined by implementations
                              Comments

                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                              Control0..*
                              TypeExtension
                              Is Modifierfalse
                              Summaryfalse
                              Alternate Namesextensions, user content
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                              690. Observation.component:dna-region.modifierExtension
                              Definition

                              May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                              Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                              ShortExtensions that cannot be ignored even if unrecognized
                              Comments

                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                              Control0..*
                              TypeExtension
                              Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                              Summarytrue
                              Requirements

                              Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                              Alternate Namesextensions, user content, modifiers
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                              692. Observation.component:dna-region.code
                              Definition

                              Describes what was observed. Sometimes this is called the observation "code".

                              Short47999-8
                              Comments

                              All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                              Control1..1
                              BindingFor example codes, see LOINCCodes
                              (example to http://hl7.org/fhir/ValueSet/observation-codes)

                              Codes identifying names of simple observations.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summarytrue
                              Requirements

                              Knowing what kind of observation is being made is essential to understanding the observation.

                              Pattern Value{
                                "coding" : [{
                                  "system" : "http://loinc.org",
                                  "code" : "47999-8"
                                }]
                              }
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              694. Observation.component:dna-region.value[x]
                              Definition

                              The information determined as a result of making the observation, if the information has a simple value.

                              ShortActual component result
                              Comments

                              Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                              Control1..1
                              Typestring
                              [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                              Is Modifierfalse
                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                              Summarytrue
                              Requirements

                              An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              696. Observation.component:dna-region.dataAbsentReason
                              Definition

                              Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                              ShortWhy the component result is missing
                              Comments

                              "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                              The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                              Control0..1
                              This element is affected by the following invariants: obs-6
                              BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                              (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                              Codes specifying why the result (Observation.value[x]) is missing.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              For many results it is necessary to handle exceptional values in measurements.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              698. Observation.component:dna-region.interpretation
                              Definition

                              A categorical assessment of an observation value. For example, high, low, normal.

                              ShortHigh, low, normal, etc.
                              Comments

                              Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                              Control0..*
                              BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                              (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                              Codes identifying interpretations of observations.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                              Alternate NamesAbnormal Flag
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              700. Observation.component:dna-region.referenceRange
                              Definition

                              Guidance on how to interpret the value by comparison to a normal or recommended range.

                              ShortProvides guide for interpretation of component result
                              Comments

                              Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                              Control0..*
                              TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              702. Observation.component:gene-fusion
                              Slice Namegene-fusion
                              Definition

                              Details zur Genfusion in Blut oder Gewebe mittels molekulargenetischer Methode

                              ShortGenfusion
                              Comments

                              For a discussion on the ways Observations can be assembled in groups together see Notes below.

                              Control0..1
                              TypeBackboneElement
                              Is Modifierfalse
                              Must Supporttrue
                              Summarytrue
                              Requirements

                              Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              704. Observation.component:gene-fusion.id
                              Definition

                              Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                              ShortUnique id for inter-element referencing
                              Control0..1
                              Typestring
                              Is Modifierfalse
                              XML FormatIn the XML format, this property is represented as an attribute.
                              Summaryfalse
                              706. Observation.component:gene-fusion.extension
                              Definition

                              May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                              ShortAdditional content defined by implementations
                              Comments

                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                              Control0..*
                              TypeExtension
                              Is Modifierfalse
                              Summaryfalse
                              Alternate Namesextensions, user content
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                              708. Observation.component:gene-fusion.modifierExtension
                              Definition

                              May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                              Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                              ShortExtensions that cannot be ignored even if unrecognized
                              Comments

                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                              Control0..*
                              TypeExtension
                              Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                              Summarytrue
                              Requirements

                              Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                              Alternate Namesextensions, user content, modifiers
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                              710. Observation.component:gene-fusion.code
                              Definition

                              Describes what was observed. Sometimes this is called the observation "code".

                              ShortType of component observation (code / type)
                              Comments

                              All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                              Control1..1
                              BindingFor example codes, see LOINCCodes
                              (example to http://hl7.org/fhir/ValueSet/observation-codes)

                              Codes identifying names of simple observations.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summarytrue
                              Requirements

                              Knowing what kind of observation is being made is essential to understanding the observation.

                              Pattern Value{
                                "coding" : [{
                                  "system" : "http://loinc.org",
                                  "code" : "95123-6"
                                }]
                              }
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              712. Observation.component:gene-fusion.value[x]
                              Definition

                              The information determined as a result of making the observation, if the information has a simple value.

                              ShortHGNC-Format für Genfusionen GENESYMBOL1::GENESYMBOL2 und Readthrough-Transkripte GENESYMBOL1-GENESYMBOL2
                              Comments

                              Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                              Control1..1
                              BindingUnless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC)
                              (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs)
                              TypeCodeableConcept
                              [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                              Is Modifierfalse
                              Summarytrue
                              Requirements

                              An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              714. Observation.component:gene-fusion.dataAbsentReason
                              Definition

                              Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                              ShortWhy the component result is missing
                              Comments

                              "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                              The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                              Control0..1
                              This element is affected by the following invariants: obs-6
                              BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                              (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                              Codes specifying why the result (Observation.value[x]) is missing.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              For many results it is necessary to handle exceptional values in measurements.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              716. Observation.component:gene-fusion.interpretation
                              Definition

                              A categorical assessment of an observation value. For example, high, low, normal.

                              ShortHigh, low, normal, etc.
                              Comments

                              Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                              Control0..*
                              BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                              (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                              Codes identifying interpretations of observations.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                              Alternate NamesAbnormal Flag
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              718. Observation.component:gene-fusion.referenceRange
                              Definition

                              Guidance on how to interpret the value by comparison to a normal or recommended range.

                              ShortProvides guide for interpretation of component result
                              Comments

                              Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                              Control0..*
                              TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              720. Observation.component:detection-limit
                              Slice Namedetection-limit
                              Definition

                              Die Nachweisgrenze des Laborgeräts

                              ShortNachweisgrenze
                              Comments

                              For a discussion on the ways Observations can be assembled in groups together see Notes below.

                              Control0..1
                              TypeBackboneElement
                              Is Modifierfalse
                              Must Supporttrue
                              Summarytrue
                              Requirements

                              Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              722. Observation.component:detection-limit.id
                              Definition

                              Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                              ShortUnique id for inter-element referencing
                              Control0..1
                              Typestring
                              Is Modifierfalse
                              XML FormatIn the XML format, this property is represented as an attribute.
                              Summaryfalse
                              724. Observation.component:detection-limit.extension
                              Definition

                              May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                              ShortAdditional content defined by implementations
                              Comments

                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                              Control0..*
                              TypeExtension
                              Is Modifierfalse
                              Summaryfalse
                              Alternate Namesextensions, user content
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                              726. Observation.component:detection-limit.modifierExtension
                              Definition

                              May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                              Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                              ShortExtensions that cannot be ignored even if unrecognized
                              Comments

                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                              Control0..*
                              TypeExtension
                              Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                              Summarytrue
                              Requirements

                              Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                              Alternate Namesextensions, user content, modifiers
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                              728. Observation.component:detection-limit.code
                              Definition

                              Describes what was observed. Sometimes this is called the observation "code".

                              ShortType of component observation (code / type)
                              Comments

                              All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                              Control1..1
                              BindingFor example codes, see LOINCCodes
                              (example to http://hl7.org/fhir/ValueSet/observation-codes)

                              Codes identifying names of simple observations.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summarytrue
                              Requirements

                              Knowing what kind of observation is being made is essential to understanding the observation.

                              Pattern Value{
                                "coding" : [{
                                  "system" : "http://loinc.org",
                                  "code" : "87706-8"
                                }]
                              }
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              730. Observation.component:detection-limit.value[x]
                              Definition

                              The information determined as a result of making the observation, if the information has a simple value.

                              ShortWird üblicherweise als Prozentsatz angegeben
                              Comments

                              Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                              Control0..1
                              TypeQuantity
                              [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                              Is Modifierfalse
                              Summarytrue
                              Requirements

                              An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              732. Observation.component:detection-limit.dataAbsentReason
                              Definition

                              Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                              ShortWhy the component result is missing
                              Comments

                              "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                              The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                              Control0..1
                              This element is affected by the following invariants: obs-6
                              BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                              (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                              Codes specifying why the result (Observation.value[x]) is missing.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              For many results it is necessary to handle exceptional values in measurements.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              734. Observation.component:detection-limit.interpretation
                              Definition

                              A categorical assessment of an observation value. For example, high, low, normal.

                              ShortHigh, low, normal, etc.
                              Comments

                              Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                              Control0..*
                              BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                              (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                              Codes identifying interpretations of observations.

                              TypeCodeableConcept
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                              Alternate NamesAbnormal Flag
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              736. Observation.component:detection-limit.referenceRange
                              Definition

                              Guidance on how to interpret the value by comparison to a normal or recommended range.

                              ShortProvides guide for interpretation of component result
                              Comments

                              Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                              Control0..*
                              TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                              Is Modifierfalse
                              Summaryfalse
                              Requirements

                              Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))