MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Resource Profile: MII Profile SE HPO Assessment

Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-hpo-assessment Version: 2027.0.0-ballot
Active as of 2026-09-14 Computable Name: MII_PR_Seltene_HPO_Assessment

Profile for HPO-based phenotypic observations in the context of rare diseases. This profile uses the Human Phenotype Ontology (HPO) to describe clinical symptoms and phenotypic abnormalities.

This profile describes phenotyping according to the Human Phenotype Ontology (HPO) in the diagnostics of rare diseases. It enables the structured recording of phenotypic abnormalities and clinical features.

HL7 Phenomics IG pattern

This profile follows the HL7 Phenomics Exchange Implementation Guide pattern for documenting phenotypic features. This means:

  • value[x] is not used — instead, status and severity are recorded in component elements
  • component[status] documents whether the phenotype is present (Present) or explicitly excluded (Absent)
  • component[severity] allows specifying a severity (Mild, Moderate, Severe, Profound, Borderline)

This pattern enables more precise and internationally interoperable documentation of phenotypic findings.

Point-in-time documentation

Important: Each HPO observation represents a specific point in time of the phenotype assessment. Since phenotypes can change over the course of a disease, it is essential to:

  • Document individual observations with precise timestamps (effectiveDateTime)
  • Record changes over time via the component[status].interpretation element
  • Consider parallel documentation both as an Observation (point in time) and as a symptom condition (period)

Note on date recording: The date (effectiveDateTime) is not part of the core data sets but SHOULD be recorded whenever possible to ensure the temporal traceability of the phenotype development.

This point-in-time recording enables the traceability of disease progression and therapy effects in rare diseases.

Demarcation from the symptom condition

Important: The distinction between the HPO observation and the symptom condition is clinically significant:

  • HPO observation: documents a single examination/assessment at a specific point in time (e.g. "arachnodactyly was observed on 2024-03-15")
  • Symptom condition: documents a persistent state over a period (e.g. "the patient has had arachnodactyly since childhood")

A complete example of this distinction can be found in the Marfan syndrome example: Marfan example

There it is shown how:

  • Individual HPO observations are recorded at different examination appointments
  • These observations serve as evidence for persistent symptom conditions
  • Multiple confirmations of the same phenotype increase diagnostic certainty

Linking with evidence

The derivedFrom element enables linking the HPO observation with concrete clinical findings:

  • Laboratory values: reference to abnormal laboratory results (e.g. elevated CK values in muscular dystrophy)
  • Imaging: reference to radiological or other imaging findings
  • Other observations: linking with further clinical assessments

This referencing creates transparency about the basis of the phenotypic assessment.

Phenotype status (Present/Absent)

The component[status] element documents whether a phenotype is present or explicitly excluded. This enables the precise documentation of "negative" findings (the phenotype was checked and is not present).

{
  "component": [{
    "code": {
      "coding": [{
        "system": "http://snomed.info/sct",
        "code": "260411009",
        "display": "Presence findings"
      }]
    },
    "valueCodeableConcept": {
      "coding": [{
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      }]
    }
  }]
}

Available status codes

LOINC code Display Description
LA9633-4 Present The phenotype is present
LA9634-2 Absent The phenotype is explicitly excluded

Severity

The optional component[severity] element enables documenting the severity of a phenotype according to the HPO severity ontology:

{
  "component": [{
    "code": {
      "coding": [{
        "system": "http://purl.obolibrary.org/obo/hp.owl",
        "code": "HP:0012824",
        "display": "Severity"
      }]
    },
    "valueCodeableConcept": {
      "coding": [{
        "system": "http://purl.obolibrary.org/obo/hp.owl",
        "code": "HP:0012826",
        "display": "Moderate"
      }]
    }
  }]
}

Available severity codes

HPO code Display Description
HP:0012825 Mild Mild manifestation
HP:0012826 Moderate Moderate manifestation
HP:0012828 Severe Severe manifestation
HP:0012829 Profound Very severe manifestation
HP:0012827 Borderline Borderline manifestation

Change status of HPO phenotypes

In accordance with the requirements of the Model Project Genome Sequencing, this profile supports the documentation of changes in HPO phenotypes over time. The change status is documented in the component[status].interpretation element, together with the presence status:

{
  "component": [{
    "code": {
      "coding": [{
        "system": "http://snomed.info/sct",
        "code": "260411009",
        "display": "Presence findings"
      }]
    },
    "valueCodeableConcept": {
      "coding": [{
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      }]
    },
    "interpretation": [{
      "coding": [{
        "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/CodeSystem/mii-cs-seltene-hpo-change-status",
        "code": "improved",
        "display": "Verbessert"
      }]
    }]
  }]
}

Available change status codes

Code Display Description
newly-added Newly added The phenotype was newly observed/diagnosed
improved Improved The phenotype has improved
degraded Degraded The phenotype has worsened
no-longer-observed No longer observed The phenotype is no longer observed/has disappeared
unchanged Unchanged The phenotype has remained unchanged

Search parameters are declared module-wide in the CapabilityStatement — machine-readable and complete there, rather than repeated by hand per profile.

Example instances are linked in the "Examples" section of the profile page.

Usages:

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots, and their representations.

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* Observation Measurements and simple assertions
Constraints: obs-6, obs-7
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... status ?!SΣ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.
... subject SΣ 1..1 Reference(Patient) Patient mit der phänotypischen Anomalie
... encounter SΣ 0..1 Reference(Encounter) Gesundheitskontakt, bei dem der Phänotyp beobachtet wurde
... Slices for effective[x] SΣ 0..1 Zeitpunkt der Phänotyp-Beobachtung oder Beobachtungszeitraum
Slice: Unordered, Closed by type:$this
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effective[x]:effectiveDateTime Σ 0..1 dateTime Clinically relevant time/time-period for observation
.... effective[x]:effectivePeriod Σ 0..1 Period Clinically relevant time/time-period for observation
..... start ΣC 0..1 dateTime Starting time with inclusive boundary
..... end ΣC 0..1 dateTime End time with inclusive boundary, if not ongoing
... note S 0..* Annotation Zusätzliche klinische Anmerkungen zum Phänotyp
... bodySite S 0..1 CodeableConcept Körperstelle, an der der Phänotyp beobachtet wird
Binding: SNOMEDCTBodyStructures (extensible)
... method S 0..1 CodeableConcept Methode zur Beobachtung oder Bewertung des Phänotyps
Binding: ObservationMethods (extensible)
... derivedFrom SΣ 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Verwandte Beobachtungen oder Bewertungen
... Slices for component SΣ 0..* BackboneElement Phenotype status, severity, and clinical modifiers
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
.... component:status SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Phenotype status code
Binding: LOINCCodes (example): Codes identifying names of simple observations.
Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://snomed.info/sct
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 260411009
....... display 1..1 string Representation defined by the system
Fixed Value: Presence findings
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] SΣ 0..1 CodeableConcept Present or Absent
Binding: HPO Phenotype Presence Status (required)
..... interpretation S 0..* CodeableConcept Änderungsstatus des Symptoms/Phänotyps über Zeit
Binding: MII VS Seltene Erkrankungen Symptom Change Status (Combined) (required)
.... component:severity SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Severity modifier
Binding: LOINCCodes (example): Codes identifying names of simple observations.
Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://human-phenotype-ontology.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: HP:0012824
....... display 1..1 string Representation defined by the system
Fixed Value: Severity
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] SΣ 0..1 CodeableConcept Severity grade
Binding: HPO Severity (extensible)

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Observation.status Base required ObservationStatus 📍4.0.1 FHIR Std.
Observation.code Base extensible HPO Phenotypic Observation Codes 📦2027.0.0-ballot This IG
Observation.bodySite Base extensible SNOMED CT Body Structures 📦4.0.1 FHIR Std.
Observation.method Base extensible Observation Methods 📦4.0.1 FHIR Std.
Observation.component.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:status.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:status.​value[x] Base required HPO Phenotype Presence Status 📦2027.0.0-ballot This IG
Observation.component:status.​interpretation Base required MII VS Seltene Erkrankungen Symptom Change Status (Combined) 📦2027.0.0-ballot This IG
Observation.component:severity.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:severity.​value[x] Base extensible HPO Severity 📦2027.0.0-ballot This IG

Constraints

Id Grade Path(s) Description Expression
dom-2 error Observation If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Observation 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 error Observation 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 error Observation If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Observation A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
obs-6 error Observation dataAbsentReason SHALL only be present if Observation.value[x] is not present dataAbsentReason.empty() or value.empty()
obs-7 error Observation 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()

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation 0..* Observation Measurements and simple assertions
... status S 1..1 code registered | preliminary | final | amended +
... code S 1..1 CodeableConcept HPO-phänotypischer Beobachtungscode
Binding: HPO Phenotypic Observation Codes (extensible)
.... coding
..... version 0..1 string Version of the system - if relevant
... subject S 1..1 Reference(Patient) Patient mit der phänotypischen Anomalie
... Slices for effective[x] S 0..1 Zeitpunkt der Phänotyp-Beobachtung oder Beobachtungszeitraum
Slice: Unordered, Open by type:$this
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effective[x]:effectiveDateTime 0..1 dateTime Clinically relevant time/time-period for observation
.... effective[x]:effectivePeriod 0..1 Period Clinically relevant time/time-period for observation
..... start 0..1 dateTime Starting time with inclusive boundary
..... end 0..1 dateTime End time with inclusive boundary, if not ongoing
... value[x] 0..0 Not used - use component instead
... note S 0..* Annotation Zusätzliche klinische Anmerkungen zum Phänotyp
... bodySite S 0..1 CodeableConcept Körperstelle, an der der Phänotyp beobachtet wird
Binding: SNOMEDCTBodyStructures (extensible)
... method S 0..1 CodeableConcept Methode zur Beobachtung oder Bewertung des Phänotyps
Binding: ObservationMethods (extensible)
... derivedFrom S 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Verwandte Beobachtungen oder Bewertungen
... Slices for component S 0..* BackboneElement Phenotype status, severity, and clinical modifiers
Slice: Unordered, Open by pattern:code
.... component:status S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Phenotype status code
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://snomed.info/sct
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 260411009
....... display 1..1 string Representation defined by the system
Fixed Value: Presence findings
..... value[x] S 0..1 CodeableConcept Present or Absent
Binding: HPO Phenotype Presence Status (required)
..... interpretation S 0..* CodeableConcept Änderungsstatus des Symptoms/Phänotyps über Zeit
Binding: MII VS Seltene Erkrankungen Symptom Change Status (Combined) (required)
...... coding
....... code 0..1 code Symbol in syntax defined by the system
.... component:severity S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Severity modifier
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://human-phenotype-ontology.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: HP:0012824
....... display 1..1 string Representation defined by the system
Fixed Value: Severity
..... value[x] S 0..1 CodeableConcept Severity grade
Binding: HPO Severity (extensible)

doco Documentation for this format

Terminology Bindings (Differential)

Path Status Usage ValueSet Version Source
Observation.code Base extensible HPO Phenotypic Observation Codes 📦2027.0.0-ballot This IG
Observation.bodySite Base extensible SNOMED CT Body Structures 📦4.0.1 FHIR Std.
Observation.method Base extensible Observation Methods 📦4.0.1 FHIR Std.
Observation.component:status.​value[x] Base required HPO Phenotype Presence Status 📦2027.0.0-ballot This IG
Observation.component:status.​interpretation Base required MII VS Seltene Erkrankungen Symptom Change Status (Combined) 📦2027.0.0-ballot This IG
Observation.component:severity.​value[x] Base extensible HPO Severity 📦2027.0.0-ballot This IG
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* Observation Measurements and simple assertions
Constraints: obs-6, obs-7
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... language 0..1 code Language of the resource content
Binding: CommonLanguages (preferred): A human language.
Additional BindingsPurpose
AllLanguages Max Binding
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... extension 0..* Extension Additional content defined by implementations
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business Identifier for observation
... basedOn Σ 0..* Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) Fulfills plan, proposal or order
... partOf Σ 0..* Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) Part of referenced event
... status ?!SΣ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.
... category 0..* CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
... code SΣ 1..1 CodeableConcept HPO-phänotypischer Beobachtungscode
Binding: HPO Phenotypic Observation Codes (extensible)
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... coding Σ 0..* Coding Code defined by a terminology system
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... system Σ 0..1 uri Identity of the terminology system
..... version Σ 0..1 string Version of the system - if relevant
..... code Σ 0..1 code Symbol in syntax defined by the system
..... display Σ 0..1 string Representation defined by the system
..... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
.... text Σ 0..1 string Plain text representation of the concept
... subject SΣ 1..1 Reference(Patient) Patient mit der phänotypischen Anomalie
... focus Σ 0..* Reference(Resource) What the observation is about, when it is not about the subject of record
... encounter SΣ 0..1 Reference(Encounter) Gesundheitskontakt, bei dem der Phänotyp beobachtet wurde
... Slices for effective[x] SΣ 0..1 Zeitpunkt der Phänotyp-Beobachtung oder Beobachtungszeitraum
Slice: Unordered, Closed by type:$this
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effective[x]:effectiveDateTime Σ 0..1 dateTime Clinically relevant time/time-period for observation
.... effective[x]:effectivePeriod Σ 0..1 Period Clinically relevant time/time-period for observation
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... start ΣC 0..1 dateTime Starting time with inclusive boundary
..... end ΣC 0..1 dateTime End time with inclusive boundary, if not ongoing
... issued Σ 0..1 instant Date/Time this version was made available
... performer Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
... note S 0..* Annotation Zusätzliche klinische Anmerkungen zum Phänotyp
... bodySite S 0..1 CodeableConcept Körperstelle, an der der Phänotyp beobachtet wird
Binding: SNOMEDCTBodyStructures (extensible)
... method S 0..1 CodeableConcept Methode zur Beobachtung oder Bewertung des Phänotyps
Binding: ObservationMethods (extensible)
... specimen 0..1 Reference(Specimen) Specimen used for this observation
... device 0..1 Reference(Device | DeviceMetric) (Measurement) Device
... referenceRange C 0..* BackboneElement Provides guide for interpretation
Constraints: obs-3
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... low C 0..1 SimpleQuantity(4.0.1) Low Range, if relevant
.... high C 0..1 SimpleQuantity(4.0.1) High Range, if relevant
.... type 0..1 CodeableConcept Reference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
.... appliesTo 0..* CodeableConcept Reference range population
Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
.... age 0..1 Range Applicable age range, if relevant
.... text 0..1 string Text based reference range in an observation
... hasMember Σ 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Related resource that belongs to the Observation group
... derivedFrom SΣ 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Verwandte Beobachtungen oder Bewertungen
... Slices for component SΣ 0..* BackboneElement Phenotype status, severity, and clinical modifiers
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
..... value[x] Σ 0..1 Actual component result
...... valueQuantity Quantity
...... valueCodeableConcept CodeableConcept
...... valueString string
...... valueBoolean boolean
...... valueInteger integer
...... valueRange Range
...... valueRatio Ratio
...... valueSampledData SampledData
...... valueTime time
...... valueDateTime dateTime
...... valuePeriod Period
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:status SΣ 0..1 BackboneElement Component results
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Phenotype status code
Binding: LOINCCodes (example): Codes identifying names of simple observations.
Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://snomed.info/sct
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 260411009
....... display 1..1 string Representation defined by the system
Fixed Value: Presence findings
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] SΣ 0..1 CodeableConcept Present or Absent
Binding: HPO Phenotype Presence Status (required)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation S 0..* CodeableConcept Änderungsstatus des Symptoms/Phänotyps über Zeit
Binding: MII VS Seltene Erkrankungen Symptom Change Status (Combined) (required)
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding Σ 0..* Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system Σ 0..1 uri Identity of the terminology system
....... version Σ 0..1 string Version of the system - if relevant
....... code Σ 0..1 code Symbol in syntax defined by the system
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:severity SΣ 0..1 BackboneElement Component results
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Severity modifier
Binding: LOINCCodes (example): Codes identifying names of simple observations.
Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://human-phenotype-ontology.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: HP:0012824
....... display 1..1 string Representation defined by the system
Fixed Value: Severity
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] SΣ 0..1 CodeableConcept Severity grade
Binding: HPO Severity (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Observation.language Base preferred Common Languages 📍4.0.1 FHIR Std.
Observation.status Base required ObservationStatus 📍4.0.1 FHIR Std.
Observation.category Base preferred Observation Category Codes 📍4.0.1 FHIR Std.
Observation.code Base extensible HPO Phenotypic Observation Codes 📦2027.0.0-ballot This IG
Observation.dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.bodySite Base extensible SNOMED CT Body Structures 📦4.0.1 FHIR Std.
Observation.method Base extensible Observation Methods 📦4.0.1 FHIR Std.
Observation.referenceRange.​type Base preferred Observation Reference Range Meaning Codes 📍4.0.1 FHIR Std.
Observation.referenceRange.​appliesTo Base example Observation Reference Range Applies To Codes 📍4.0.1 FHIR Std.
Observation.component.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:status.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:status.​value[x] Base required HPO Phenotype Presence Status 📦2027.0.0-ballot This IG
Observation.component:status.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:status.​interpretation Base required MII VS Seltene Erkrankungen Symptom Change Status (Combined) 📦2027.0.0-ballot This IG
Observation.component:severity.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:severity.​value[x] Base extensible HPO Severity 📦2027.0.0-ballot This IG
Observation.component:severity.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:severity.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Observation If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Observation 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 error Observation 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 error Observation If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Observation A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
obs-3 error Observation.referenceRange Must have at least a low or a high or text low.exists() or high.exists() or text.exists()
obs-6 error Observation dataAbsentReason SHALL only be present if Observation.value[x] is not present dataAbsentReason.empty() or value.empty()
obs-7 error Observation 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()

Summary

Mandatory: 1 element
Must-Support: 17 elements
Prohibited: 1 element

Slices

This structure defines the following Slices:

  • The element 1 is sliced based on the value of Observation.effective[x]
  • The element 1 is sliced based on the value of Observation.component

Key Elements View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* Observation Measurements and simple assertions
Constraints: obs-6, obs-7
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... status ?!SΣ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.
... subject SΣ 1..1 Reference(Patient) Patient mit der phänotypischen Anomalie
... encounter SΣ 0..1 Reference(Encounter) Gesundheitskontakt, bei dem der Phänotyp beobachtet wurde
... Slices for effective[x] SΣ 0..1 Zeitpunkt der Phänotyp-Beobachtung oder Beobachtungszeitraum
Slice: Unordered, Closed by type:$this
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effective[x]:effectiveDateTime Σ 0..1 dateTime Clinically relevant time/time-period for observation
.... effective[x]:effectivePeriod Σ 0..1 Period Clinically relevant time/time-period for observation
..... start ΣC 0..1 dateTime Starting time with inclusive boundary
..... end ΣC 0..1 dateTime End time with inclusive boundary, if not ongoing
... note S 0..* Annotation Zusätzliche klinische Anmerkungen zum Phänotyp
... bodySite S 0..1 CodeableConcept Körperstelle, an der der Phänotyp beobachtet wird
Binding: SNOMEDCTBodyStructures (extensible)
... method S 0..1 CodeableConcept Methode zur Beobachtung oder Bewertung des Phänotyps
Binding: ObservationMethods (extensible)
... derivedFrom SΣ 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Verwandte Beobachtungen oder Bewertungen
... Slices for component SΣ 0..* BackboneElement Phenotype status, severity, and clinical modifiers
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
.... component:status SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Phenotype status code
Binding: LOINCCodes (example): Codes identifying names of simple observations.
Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://snomed.info/sct
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 260411009
....... display 1..1 string Representation defined by the system
Fixed Value: Presence findings
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] SΣ 0..1 CodeableConcept Present or Absent
Binding: HPO Phenotype Presence Status (required)
..... interpretation S 0..* CodeableConcept Änderungsstatus des Symptoms/Phänotyps über Zeit
Binding: MII VS Seltene Erkrankungen Symptom Change Status (Combined) (required)
.... component:severity SΣ 0..1 BackboneElement Component results
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Severity modifier
Binding: LOINCCodes (example): Codes identifying names of simple observations.
Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://human-phenotype-ontology.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: HP:0012824
....... display 1..1 string Representation defined by the system
Fixed Value: Severity
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] SΣ 0..1 CodeableConcept Severity grade
Binding: HPO Severity (extensible)

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Observation.status Base required ObservationStatus 📍4.0.1 FHIR Std.
Observation.code Base extensible HPO Phenotypic Observation Codes 📦2027.0.0-ballot This IG
Observation.bodySite Base extensible SNOMED CT Body Structures 📦4.0.1 FHIR Std.
Observation.method Base extensible Observation Methods 📦4.0.1 FHIR Std.
Observation.component.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:status.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:status.​value[x] Base required HPO Phenotype Presence Status 📦2027.0.0-ballot This IG
Observation.component:status.​interpretation Base required MII VS Seltene Erkrankungen Symptom Change Status (Combined) 📦2027.0.0-ballot This IG
Observation.component:severity.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:severity.​value[x] Base extensible HPO Severity 📦2027.0.0-ballot This IG

Constraints

Id Grade Path(s) Description Expression
dom-2 error Observation If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Observation 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 error Observation 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 error Observation If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Observation A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
obs-6 error Observation dataAbsentReason SHALL only be present if Observation.value[x] is not present dataAbsentReason.empty() or value.empty()
obs-7 error Observation 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()

Differential View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation 0..* Observation Measurements and simple assertions
... status S 1..1 code registered | preliminary | final | amended +
... code S 1..1 CodeableConcept HPO-phänotypischer Beobachtungscode
Binding: HPO Phenotypic Observation Codes (extensible)
.... coding
..... version 0..1 string Version of the system - if relevant
... subject S 1..1 Reference(Patient) Patient mit der phänotypischen Anomalie
... Slices for effective[x] S 0..1 Zeitpunkt der Phänotyp-Beobachtung oder Beobachtungszeitraum
Slice: Unordered, Open by type:$this
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effective[x]:effectiveDateTime 0..1 dateTime Clinically relevant time/time-period for observation
.... effective[x]:effectivePeriod 0..1 Period Clinically relevant time/time-period for observation
..... start 0..1 dateTime Starting time with inclusive boundary
..... end 0..1 dateTime End time with inclusive boundary, if not ongoing
... value[x] 0..0 Not used - use component instead
... note S 0..* Annotation Zusätzliche klinische Anmerkungen zum Phänotyp
... bodySite S 0..1 CodeableConcept Körperstelle, an der der Phänotyp beobachtet wird
Binding: SNOMEDCTBodyStructures (extensible)
... method S 0..1 CodeableConcept Methode zur Beobachtung oder Bewertung des Phänotyps
Binding: ObservationMethods (extensible)
... derivedFrom S 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Verwandte Beobachtungen oder Bewertungen
... Slices for component S 0..* BackboneElement Phenotype status, severity, and clinical modifiers
Slice: Unordered, Open by pattern:code
.... component:status S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Phenotype status code
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://snomed.info/sct
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 260411009
....... display 1..1 string Representation defined by the system
Fixed Value: Presence findings
..... value[x] S 0..1 CodeableConcept Present or Absent
Binding: HPO Phenotype Presence Status (required)
..... interpretation S 0..* CodeableConcept Änderungsstatus des Symptoms/Phänotyps über Zeit
Binding: MII VS Seltene Erkrankungen Symptom Change Status (Combined) (required)
...... coding
....... code 0..1 code Symbol in syntax defined by the system
.... component:severity S 0..1 BackboneElement Component results
..... code S 1..1 CodeableConcept Severity modifier
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://human-phenotype-ontology.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: HP:0012824
....... display 1..1 string Representation defined by the system
Fixed Value: Severity
..... value[x] S 0..1 CodeableConcept Severity grade
Binding: HPO Severity (extensible)

doco Documentation for this format

Terminology Bindings (Differential)

Path Status Usage ValueSet Version Source
Observation.code Base extensible HPO Phenotypic Observation Codes 📦2027.0.0-ballot This IG
Observation.bodySite Base extensible SNOMED CT Body Structures 📦4.0.1 FHIR Std.
Observation.method Base extensible Observation Methods 📦4.0.1 FHIR Std.
Observation.component:status.​value[x] Base required HPO Phenotype Presence Status 📦2027.0.0-ballot This IG
Observation.component:status.​interpretation Base required MII VS Seltene Erkrankungen Symptom Change Status (Combined) 📦2027.0.0-ballot This IG
Observation.component:severity.​value[x] Base extensible HPO Severity 📦2027.0.0-ballot This IG

Snapshot ViewView

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* Observation Measurements and simple assertions
Constraints: obs-6, obs-7
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... language 0..1 code Language of the resource content
Binding: CommonLanguages (preferred): A human language.
Additional BindingsPurpose
AllLanguages Max Binding
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... extension 0..* Extension Additional content defined by implementations
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business Identifier for observation
... basedOn Σ 0..* Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) Fulfills plan, proposal or order
... partOf Σ 0..* Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) Part of referenced event
... status ?!SΣ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.
... category 0..* CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
... code SΣ 1..1 CodeableConcept HPO-phänotypischer Beobachtungscode
Binding: HPO Phenotypic Observation Codes (extensible)
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... coding Σ 0..* Coding Code defined by a terminology system
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... system Σ 0..1 uri Identity of the terminology system
..... version Σ 0..1 string Version of the system - if relevant
..... code Σ 0..1 code Symbol in syntax defined by the system
..... display Σ 0..1 string Representation defined by the system
..... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
.... text Σ 0..1 string Plain text representation of the concept
... subject SΣ 1..1 Reference(Patient) Patient mit der phänotypischen Anomalie
... focus Σ 0..* Reference(Resource) What the observation is about, when it is not about the subject of record
... encounter SΣ 0..1 Reference(Encounter) Gesundheitskontakt, bei dem der Phänotyp beobachtet wurde
... Slices for effective[x] SΣ 0..1 Zeitpunkt der Phänotyp-Beobachtung oder Beobachtungszeitraum
Slice: Unordered, Closed by type:$this
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effective[x]:effectiveDateTime Σ 0..1 dateTime Clinically relevant time/time-period for observation
.... effective[x]:effectivePeriod Σ 0..1 Period Clinically relevant time/time-period for observation
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... start ΣC 0..1 dateTime Starting time with inclusive boundary
..... end ΣC 0..1 dateTime End time with inclusive boundary, if not ongoing
... issued Σ 0..1 instant Date/Time this version was made available
... performer Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
... note S 0..* Annotation Zusätzliche klinische Anmerkungen zum Phänotyp
... bodySite S 0..1 CodeableConcept Körperstelle, an der der Phänotyp beobachtet wird
Binding: SNOMEDCTBodyStructures (extensible)
... method S 0..1 CodeableConcept Methode zur Beobachtung oder Bewertung des Phänotyps
Binding: ObservationMethods (extensible)
... specimen 0..1 Reference(Specimen) Specimen used for this observation
... device 0..1 Reference(Device | DeviceMetric) (Measurement) Device
... referenceRange C 0..* BackboneElement Provides guide for interpretation
Constraints: obs-3
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... low C 0..1 SimpleQuantity(4.0.1) Low Range, if relevant
.... high C 0..1 SimpleQuantity(4.0.1) High Range, if relevant
.... type 0..1 CodeableConcept Reference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
.... appliesTo 0..* CodeableConcept Reference range population
Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
.... age 0..1 Range Applicable age range, if relevant
.... text 0..1 string Text based reference range in an observation
... hasMember Σ 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Related resource that belongs to the Observation group
... derivedFrom SΣ 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Verwandte Beobachtungen oder Bewertungen
... Slices for component SΣ 0..* BackboneElement Phenotype status, severity, and clinical modifiers
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
..... value[x] Σ 0..1 Actual component result
...... valueQuantity Quantity
...... valueCodeableConcept CodeableConcept
...... valueString string
...... valueBoolean boolean
...... valueInteger integer
...... valueRange Range
...... valueRatio Ratio
...... valueSampledData SampledData
...... valueTime time
...... valueDateTime dateTime
...... valuePeriod Period
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:status SΣ 0..1 BackboneElement Component results
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Phenotype status code
Binding: LOINCCodes (example): Codes identifying names of simple observations.
Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://snomed.info/sct
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 260411009
....... display 1..1 string Representation defined by the system
Fixed Value: Presence findings
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] SΣ 0..1 CodeableConcept Present or Absent
Binding: HPO Phenotype Presence Status (required)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation S 0..* CodeableConcept Änderungsstatus des Symptoms/Phänotyps über Zeit
Binding: MII VS Seltene Erkrankungen Symptom Change Status (Combined) (required)
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... coding Σ 0..* Coding Code defined by a terminology system
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... system Σ 0..1 uri Identity of the terminology system
....... version Σ 0..1 string Version of the system - if relevant
....... code Σ 0..1 code Symbol in syntax defined by the system
....... display Σ 0..1 string Representation defined by the system
....... userSelected Σ 0..1 boolean If this coding was chosen directly by the user
...... text Σ 0..1 string Plain text representation of the concept
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:severity SΣ 0..1 BackboneElement Component results
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code SΣ 1..1 CodeableConcept Severity modifier
Binding: LOINCCodes (example): Codes identifying names of simple observations.
Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (Complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://human-phenotype-ontology.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: HP:0012824
....... display 1..1 string Representation defined by the system
Fixed Value: Severity
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] SΣ 0..1 CodeableConcept Severity grade
Binding: HPO Severity (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Observation.language Base preferred Common Languages 📍4.0.1 FHIR Std.
Observation.status Base required ObservationStatus 📍4.0.1 FHIR Std.
Observation.category Base preferred Observation Category Codes 📍4.0.1 FHIR Std.
Observation.code Base extensible HPO Phenotypic Observation Codes 📦2027.0.0-ballot This IG
Observation.dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.bodySite Base extensible SNOMED CT Body Structures 📦4.0.1 FHIR Std.
Observation.method Base extensible Observation Methods 📦4.0.1 FHIR Std.
Observation.referenceRange.​type Base preferred Observation Reference Range Meaning Codes 📍4.0.1 FHIR Std.
Observation.referenceRange.​appliesTo Base example Observation Reference Range Applies To Codes 📍4.0.1 FHIR Std.
Observation.component.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.
Observation.component:status.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:status.​value[x] Base required HPO Phenotype Presence Status 📦2027.0.0-ballot This IG
Observation.component:status.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:status.​interpretation Base required MII VS Seltene Erkrankungen Symptom Change Status (Combined) 📦2027.0.0-ballot This IG
Observation.component:severity.​code Base example LOINC Codes 📍4.0.1 FHIR Std.
Observation.component:severity.​value[x] Base extensible HPO Severity 📦2027.0.0-ballot This IG
Observation.component:severity.​dataAbsentReason Base extensible DataAbsentReason 📍4.0.1 FHIR Std.
Observation.component:severity.​interpretation Base extensible Observation Interpretation Codes 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Observation If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Observation 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 error Observation 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 error Observation If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Observation A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
obs-3 error Observation.referenceRange Must have at least a low or a high or text low.exists() or high.exists() or text.exists()
obs-6 error Observation dataAbsentReason SHALL only be present if Observation.value[x] is not present dataAbsentReason.empty() or value.empty()
obs-7 error Observation 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()

Summary

Mandatory: 1 element
Must-Support: 17 elements
Prohibited: 1 element

Slices

This structure defines the following Slices:

  • The element 1 is sliced based on the value of Observation.effective[x]
  • The element 1 is sliced based on the value of Observation.component

 

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