Content

The profile describes the annotation of therapy options based on molecular characteristics (e.g. genetic variants, immunohistochemical findings). This particularly concerns the presumed pathogenicities of the present variants / genotypes. An implication can arise from individual variants / biomarkers or from the combination of several of them.

Diagnostic implications are knowledge artifacts that can change with the current state of knowledge. This, together with the fact that an evidence item may be updated regularly, led to the Clinical Genomics team's modeling decision to keep the diagnostic implication separate from the actual variant description. This profile is related to the therapeutic implication profile, which is used primarily for the notation of therapy options.

Content

Mapping dataset to FHIR

Search parameters

The following search parameters are relevant for the Oncology module, including in combination:

1. The search parameter "_id" MUST be supported:

   Examples:

   GET [base]/Observation?_id=example-mii-molgen-variante-1

   Usage notes: Further information on searching by "_id" can be found in the FHIR base specification - section "Parameters for all resources".

2. The search parameter "_profile" MUST be supported:

   Examples:

   GET [base]/Observation?_profile=https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-diagnostische-implikation

   Usage notes: Further information on searching by "_profile" can be found in the FHIR base specification - section "Parameters for all resources".

3. The search parameter "category" MUST be supported:

   Examples:

   GET [base]/Observation?category=http://terminology.hl7.org/CodeSystem/observation-category|laboratory

   Usage notes: Further information on searching by "category" can be found in the FHIR base specification - section "token".

4. The search parameter "code" MUST be supported:

   Examples:

   GET [base]/Observation?code=http://loinc.org|diagnostic-implication

   Usage notes: Further information on searching by "code" can be found in the FHIR base specification - section "token".

5. The search parameter "subject" MUST be supported:

   Examples:

   GET [base]/Observation?subject=Patient/example-mii-mtb-patient

   Usage notes: Further information on searching by "subject" can be found in the FHIR base specification - section "reference".

6. The search parameter "focus" MUST be supported:

   Examples:

   GET [base]/Observation?focus=Condition/example-mii-mtb-diagnose

   Usage notes: Further information on searching by "focus" can be found in the FHIR base specification - section "reference".

7. The search parameter "encounter" MUST be supported:

   Examples:

   GET [base]/Observation?encounter=Encounter/12345

   Usage notes: Further information on searching by "encounter" can be found in the FHIR base specification - section "reference".

Examples

• Key Elements Table
• Differential Table
• Snapshot Table
• Statistics/References
• All

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	MII_PR_MolGen_DiagnostischeImplikation	Diagnostic Implication Constraints: obs-6, obs-7
meta	SΣ	0..1	Meta	Metadata about the resource
profile	SΣ	0..*	canonical(StructureDefinition)	Profiles this resource claims to conform to
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
Slices for extension				Content/Rules for all slices
extension:secondary-finding		0..1	CodeableConcept	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)](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 URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
extension:body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
extension:workflow-relatedArtifact	S	0..*	RelatedArtifact	Verknüpfte Artefakte URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension:genomic-risk-assessment		0..*	Reference(RiskAssessment)	Genomic Risk Assessment URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category	S	2..*	CodeableConcept	Kategorie Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
coding	Σ	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
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://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
category:geCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
coding	Σ	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
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://terminology.hl7.org/CodeSystem/v2-0074
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: GE
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
code	SΣ	1..1	CodeableConcept	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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: diagnostic-implication
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
subject	SΣ	0..1	Reference(Patient | Group)	Patient
focus	SΣ	0..*	Reference(MII PR Onkologie Diagnose Primärtumor | MII PR MTB Diagnose Primärtumor)	What the observation is about, when it is not about the subject of record
encounter	SΣ	0..1	Reference(Encounter)	Kontakt
effective[x]	SΣ	0..1		Zeitpunkt der Beobachtung
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	SΣ	0..1	instant	Freigabedatum
Slices for derivedFrom	SΣ	1..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Abgeleitet von Slice: Unordered, Open by profile:resolve()
derivedFrom:variant	Σ	0..*	Reference(MII PR MolGen Variante)	Variant the implication is derived from
derivedFrom:genotype	Σ	0..*	Reference(Genotype)	Genotype the implication is derived from
derivedFrom:haplotype	Σ	0..*	Reference(Haplotype)	Haplotype the implication is derived from
derivedFrom:biomarker	Σ	0..*	Reference(Molecular Biomarker)	MolecularBiomarker the implication is derived from
Slices for component	SΣ	0..*	BackboneElement	Komponenten Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
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:conclusion-string	SΣ	0..1	BackboneElement	Schlussfolgerung - Text
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	conclusion-string 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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
component:evidence-level	SΣ	0..*	BackboneElement	Evidenzlevel
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	93044-6 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 93044-6
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	1A | 1B | 2A | 2B | 3 | 4 | 4-star | 3-star | 2-star | 1-star | no-star Binding: Evidence Level Examples (example): PharmGKB or ClinVar
component:clinical-significance	SΣ	0..1	BackboneElement	Klinische Signifikanz
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	53037-8 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53037-8
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign Binding: LOINC Answer List LL4034-6 (example)
component:predicted-phenotype	SΣ	0..*	BackboneElement	Vorhergesagter Phänotyp
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81259-4 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81259-4
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Phenotype code, e.g. from SNOMED CT Clinical finding, ICD-10-CM chapters 1-18, or HPO Binding Description: (example): Multiple bindings accepted
component:mode-of-inheritance	SΣ	0..1	BackboneElement	Vererbungsmodus
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	condition-inheritance 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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: condition-inheritance
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Autosomal dominant | Autosomal recessive | X-linked | ... (more) Binding: Condition Inheritance Patterns (preferred)
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Observation.status	Base	required	ObservationStatus	📍4.0.1	FHIR Std.
Observation.category	Base	preferred	Observation Category Codes	📦4.0.1	FHIR Std.
Observation.category:labCategory	Base	preferred	Observation Category Codes	📦4.0.1	FHIR Std.
Observation.category:geCategory	Base	preferred	Observation Category Codes	📦4.0.1	FHIR Std.
Observation.code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:conclusion-string.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:evidence-level.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:evidence-level.​value[x]	Base	example	Evidence Level Examples	📦3.0.0	Genomics Reporting Implementation Guide v3.0
Observation.component:clinical-significance.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:clinical-significance.​value[x]	Base	example	LOINC Answer Codes for LL4034-6	∅	unknown?
Observation.component:predicted-phenotype.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:predicted-phenotype.​value[x]	Base	example		Not State	Unknown
Observation.component:mode-of-inheritance.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:mode-of-inheritance.​value[x]	Base	preferred	Condition Inheritance Patterns	📦3.0.0	Genomics Reporting Implementation Guide v3.0

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()

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation		0..*	MII_PR_MolGen_DiagnostischeImplikation	Diagnostic Implication
meta	S	0..1	Meta	Metadata about the resource
profile	S	0..*	canonical(StructureDefinition)	Profiles this resource claims to conform to
focus	S	0..*	Reference(MII PR Onkologie Diagnose Primärtumor | MII PR MTB Diagnose Primärtumor)	What the observation is about, when it is not about the subject of record
Slices for component				Content/Rules for all slices
component:clinical-significance		0..1	BackboneElement	Klinische Signifikanz
Documentation for this format

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	MII_PR_MolGen_DiagnostischeImplikation	Diagnostic Implication Constraints: obs-6, obs-7
id	Σ	0..1	id	Logical id of this artifact
meta	SΣ	0..1	Meta	Metadata about the resource
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
versionId	Σ	0..1	id	Version specific identifier
lastUpdated	Σ	0..1	instant	When the resource version last changed
source	Σ	0..1	uri	Identifies where the resource comes from
profile	SΣ	0..*	canonical(StructureDefinition)	Profiles this resource claims to conform to
security	Σ	0..*	Coding	Security Labels applied to this resource Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System.
tag	Σ	0..*	Coding	Tags applied to this resource Binding: CommonTags (example): Codes that represent various types of tags, commonly workflow-related; e.g. "Needs review by Dr. Jones".
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 Bindings Purpose 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
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:secondary-finding		0..1	CodeableConcept	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)](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 URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
extension:body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
extension:workflow-relatedArtifact	S	0..*	RelatedArtifact	Verknüpfte Artefakte URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension:genomic-risk-assessment		0..*	Reference(RiskAssessment)	Genomic Risk Assessment URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
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 | Genomic Study)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category	S	2..*	CodeableConcept	Kategorie Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
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	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
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://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
category:geCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
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	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
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://terminology.hl7.org/CodeSystem/v2-0074
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: GE
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
code	SΣ	1..1	CodeableConcept	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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: diagnostic-implication
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
subject	SΣ	0..1	Reference(Patient | Group)	Patient
focus	SΣ	0..*	Reference(MII PR Onkologie Diagnose Primärtumor | MII PR MTB Diagnose Primärtumor)	What the observation is about, when it is not about the subject of record
encounter	SΣ	0..1	Reference(Encounter)	Kontakt
effective[x]	SΣ	0..1		Zeitpunkt der Beobachtung
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	SΣ	0..1	instant	Freigabedatum
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		0..*	CodedAnnotation	Comments about the Observation that also contain a coded type
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method		0..1	CodeableConcept	How it was done Binding: ObservationMethods (example): Methods for simple observations.
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	Low Range, if relevant
high	C	0..1	SimpleQuantity	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
Slices for derivedFrom	SΣ	1..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Abgeleitet von Slice: Unordered, Open by profile:resolve()
derivedFrom:variant	Σ	0..*	Reference(MII PR MolGen Variante)	Variant the implication is derived from
derivedFrom:genotype	Σ	0..*	Reference(Genotype)	Genotype the implication is derived from
derivedFrom:haplotype	Σ	0..*	Reference(Haplotype)	Haplotype the implication is derived from
derivedFrom:biomarker	Σ	0..*	Reference(Molecular Biomarker)	MolecularBiomarker the implication is derived from
Slices for component	SΣ	0..*	BackboneElement	Komponenten Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
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:conclusion-string	SΣ	0..1	BackboneElement	Schlussfolgerung - Text
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	conclusion-string 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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
display		0..1	string	Representation defined by the system
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]	Σ	0..1	string	Summary conclusion (interpretation/impression)
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:evidence-level	SΣ	0..*	BackboneElement	Evidenzlevel
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	93044-6 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 93044-6
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	1A | 1B | 2A | 2B | 3 | 4 | 4-star | 3-star | 2-star | 1-star | no-star Binding: Evidence Level Examples (example): PharmGKB or ClinVar
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:clinical-significance	SΣ	0..1	BackboneElement	Klinische Signifikanz
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	53037-8 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53037-8
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign Binding: LOINC Answer List LL4034-6 (example)
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:predicted-phenotype	SΣ	0..*	BackboneElement	Vorhergesagter Phänotyp
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81259-4 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81259-4
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Phenotype code, e.g. from SNOMED CT Clinical finding, ICD-10-CM chapters 1-18, or HPO Binding Description: (example): Multiple bindings accepted
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:mode-of-inheritance	SΣ	0..1	BackboneElement	Vererbungsmodus
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	condition-inheritance 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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: condition-inheritance
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Autosomal dominant | Autosomal recessive | X-linked | ... (more) Binding: Condition Inheritance Patterns (preferred)
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
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Observation.meta.security	Base	extensible	SecurityLabels	📍4.0.1	FHIR Std.
Observation.meta.tag	Base	example	Common Tags	📍4.0.1	FHIR Std.
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.category:labCategory	Base	preferred	Observation Category Codes	📦4.0.1	FHIR Std.
Observation.category:geCategory	Base	preferred	Observation Category Codes	📦4.0.1	FHIR Std.
Observation.code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
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	example	SNOMED CT Body Structures	📦4.0.1	FHIR Std.
Observation.method	Base	example	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:conclusion-string.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:conclusion-string.​dataAbsentReason	Base	extensible	DataAbsentReason	📦4.0.1	FHIR Std.
Observation.component:conclusion-string.​interpretation	Base	extensible	Observation Interpretation Codes	📦4.0.1	FHIR Std.
Observation.component:evidence-level.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:evidence-level.​value[x]	Base	example	Evidence Level Examples	📦3.0.0	Genomics Reporting Implementation Guide v3.0
Observation.component:evidence-level.​dataAbsentReason	Base	extensible	DataAbsentReason	📦4.0.1	FHIR Std.
Observation.component:evidence-level.​interpretation	Base	extensible	Observation Interpretation Codes	📦4.0.1	FHIR Std.
Observation.component:clinical-significance.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:clinical-significance.​value[x]	Base	example	LOINC Answer Codes for LL4034-6	∅	unknown?
Observation.component:clinical-significance.​dataAbsentReason	Base	extensible	DataAbsentReason	📦4.0.1	FHIR Std.
Observation.component:clinical-significance.​interpretation	Base	extensible	Observation Interpretation Codes	📦4.0.1	FHIR Std.
Observation.component:predicted-phenotype.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:predicted-phenotype.​value[x]	Base	example		Not State	Unknown
Observation.component:predicted-phenotype.​dataAbsentReason	Base	extensible	DataAbsentReason	📦4.0.1	FHIR Std.
Observation.component:predicted-phenotype.​interpretation	Base	extensible	Observation Interpretation Codes	📦4.0.1	FHIR Std.
Observation.component:mode-of-inheritance.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:mode-of-inheritance.​value[x]	Base	preferred	Condition Inheritance Patterns	📦3.0.0	Genomics Reporting Implementation Guide v3.0
Observation.component:mode-of-inheritance.​dataAbsentReason	Base	extensible	DataAbsentReason	📦4.0.1	FHIR Std.
Observation.component:mode-of-inheritance.​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()

Key Elements View

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	MII_PR_MolGen_DiagnostischeImplikation	Diagnostic Implication Constraints: obs-6, obs-7
meta	SΣ	0..1	Meta	Metadata about the resource
profile	SΣ	0..*	canonical(StructureDefinition)	Profiles this resource claims to conform to
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
Slices for extension				Content/Rules for all slices
extension:secondary-finding		0..1	CodeableConcept	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)](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 URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
extension:body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
extension:workflow-relatedArtifact	S	0..*	RelatedArtifact	Verknüpfte Artefakte URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension:genomic-risk-assessment		0..*	Reference(RiskAssessment)	Genomic Risk Assessment URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category	S	2..*	CodeableConcept	Kategorie Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
coding	Σ	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
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://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
category:geCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
coding	Σ	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
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://terminology.hl7.org/CodeSystem/v2-0074
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: GE
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
code	SΣ	1..1	CodeableConcept	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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: diagnostic-implication
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
subject	SΣ	0..1	Reference(Patient | Group)	Patient
focus	SΣ	0..*	Reference(MII PR Onkologie Diagnose Primärtumor | MII PR MTB Diagnose Primärtumor)	What the observation is about, when it is not about the subject of record
encounter	SΣ	0..1	Reference(Encounter)	Kontakt
effective[x]	SΣ	0..1		Zeitpunkt der Beobachtung
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	SΣ	0..1	instant	Freigabedatum
Slices for derivedFrom	SΣ	1..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Abgeleitet von Slice: Unordered, Open by profile:resolve()
derivedFrom:variant	Σ	0..*	Reference(MII PR MolGen Variante)	Variant the implication is derived from
derivedFrom:genotype	Σ	0..*	Reference(Genotype)	Genotype the implication is derived from
derivedFrom:haplotype	Σ	0..*	Reference(Haplotype)	Haplotype the implication is derived from
derivedFrom:biomarker	Σ	0..*	Reference(Molecular Biomarker)	MolecularBiomarker the implication is derived from
Slices for component	SΣ	0..*	BackboneElement	Komponenten Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
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:conclusion-string	SΣ	0..1	BackboneElement	Schlussfolgerung - Text
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	conclusion-string 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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
component:evidence-level	SΣ	0..*	BackboneElement	Evidenzlevel
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	93044-6 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 93044-6
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	1A | 1B | 2A | 2B | 3 | 4 | 4-star | 3-star | 2-star | 1-star | no-star Binding: Evidence Level Examples (example): PharmGKB or ClinVar
component:clinical-significance	SΣ	0..1	BackboneElement	Klinische Signifikanz
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	53037-8 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53037-8
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign Binding: LOINC Answer List LL4034-6 (example)
component:predicted-phenotype	SΣ	0..*	BackboneElement	Vorhergesagter Phänotyp
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81259-4 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81259-4
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Phenotype code, e.g. from SNOMED CT Clinical finding, ICD-10-CM chapters 1-18, or HPO Binding Description: (example): Multiple bindings accepted
component:mode-of-inheritance	SΣ	0..1	BackboneElement	Vererbungsmodus
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	condition-inheritance 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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: condition-inheritance
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Autosomal dominant | Autosomal recessive | X-linked | ... (more) Binding: Condition Inheritance Patterns (preferred)
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Observation.status	Base	required	ObservationStatus	📍4.0.1	FHIR Std.
Observation.category	Base	preferred	Observation Category Codes	📦4.0.1	FHIR Std.
Observation.category:labCategory	Base	preferred	Observation Category Codes	📦4.0.1	FHIR Std.
Observation.category:geCategory	Base	preferred	Observation Category Codes	📦4.0.1	FHIR Std.
Observation.code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:conclusion-string.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:evidence-level.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:evidence-level.​value[x]	Base	example	Evidence Level Examples	📦3.0.0	Genomics Reporting Implementation Guide v3.0
Observation.component:clinical-significance.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:clinical-significance.​value[x]	Base	example	LOINC Answer Codes for LL4034-6	∅	unknown?
Observation.component:predicted-phenotype.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:predicted-phenotype.​value[x]	Base	example		Not State	Unknown
Observation.component:mode-of-inheritance.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:mode-of-inheritance.​value[x]	Base	preferred	Condition Inheritance Patterns	📦3.0.0	Genomics Reporting Implementation Guide v3.0

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

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation		0..*	MII_PR_MolGen_DiagnostischeImplikation	Diagnostic Implication
meta	S	0..1	Meta	Metadata about the resource
profile	S	0..*	canonical(StructureDefinition)	Profiles this resource claims to conform to
focus	S	0..*	Reference(MII PR Onkologie Diagnose Primärtumor | MII PR MTB Diagnose Primärtumor)	What the observation is about, when it is not about the subject of record
Slices for component				Content/Rules for all slices
component:clinical-significance		0..1	BackboneElement	Klinische Signifikanz
Documentation for this format

Snapshot ViewView

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	MII_PR_MolGen_DiagnostischeImplikation	Diagnostic Implication Constraints: obs-6, obs-7
id	Σ	0..1	id	Logical id of this artifact
meta	SΣ	0..1	Meta	Metadata about the resource
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
versionId	Σ	0..1	id	Version specific identifier
lastUpdated	Σ	0..1	instant	When the resource version last changed
source	Σ	0..1	uri	Identifies where the resource comes from
profile	SΣ	0..*	canonical(StructureDefinition)	Profiles this resource claims to conform to
security	Σ	0..*	Coding	Security Labels applied to this resource Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System.
tag	Σ	0..*	Coding	Tags applied to this resource Binding: CommonTags (example): Codes that represent various types of tags, commonly workflow-related; e.g. "Needs review by Dr. Jones".
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 Bindings Purpose 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
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:secondary-finding		0..1	CodeableConcept	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)](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 URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
extension:body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
extension:workflow-relatedArtifact	S	0..*	RelatedArtifact	Verknüpfte Artefakte URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension:genomic-risk-assessment		0..*	Reference(RiskAssessment)	Genomic Risk Assessment URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
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 | Genomic Study)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category	S	2..*	CodeableConcept	Kategorie Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
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	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
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://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
category:geCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
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	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
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://terminology.hl7.org/CodeSystem/v2-0074
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: GE
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
code	SΣ	1..1	CodeableConcept	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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: diagnostic-implication
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
subject	SΣ	0..1	Reference(Patient | Group)	Patient
focus	SΣ	0..*	Reference(MII PR Onkologie Diagnose Primärtumor | MII PR MTB Diagnose Primärtumor)	What the observation is about, when it is not about the subject of record
encounter	SΣ	0..1	Reference(Encounter)	Kontakt
effective[x]	SΣ	0..1		Zeitpunkt der Beobachtung
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	SΣ	0..1	instant	Freigabedatum
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		0..*	CodedAnnotation	Comments about the Observation that also contain a coded type
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method		0..1	CodeableConcept	How it was done Binding: ObservationMethods (example): Methods for simple observations.
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	Low Range, if relevant
high	C	0..1	SimpleQuantity	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
Slices for derivedFrom	SΣ	1..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Abgeleitet von Slice: Unordered, Open by profile:resolve()
derivedFrom:variant	Σ	0..*	Reference(MII PR MolGen Variante)	Variant the implication is derived from
derivedFrom:genotype	Σ	0..*	Reference(Genotype)	Genotype the implication is derived from
derivedFrom:haplotype	Σ	0..*	Reference(Haplotype)	Haplotype the implication is derived from
derivedFrom:biomarker	Σ	0..*	Reference(Molecular Biomarker)	MolecularBiomarker the implication is derived from
Slices for component	SΣ	0..*	BackboneElement	Komponenten Slice: Unordered, Open by value:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
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:conclusion-string	SΣ	0..1	BackboneElement	Schlussfolgerung - Text
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	conclusion-string 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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
display		0..1	string	Representation defined by the system
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]	Σ	0..1	string	Summary conclusion (interpretation/impression)
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:evidence-level	SΣ	0..*	BackboneElement	Evidenzlevel
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	93044-6 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 93044-6
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	1A | 1B | 2A | 2B | 3 | 4 | 4-star | 3-star | 2-star | 1-star | no-star Binding: Evidence Level Examples (example): PharmGKB or ClinVar
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:clinical-significance	SΣ	0..1	BackboneElement	Klinische Signifikanz
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	53037-8 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53037-8
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign Binding: LOINC Answer List LL4034-6 (example)
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:predicted-phenotype	SΣ	0..*	BackboneElement	Vorhergesagter Phänotyp
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81259-4 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://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81259-4
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Phenotype code, e.g. from SNOMED CT Clinical finding, ICD-10-CM chapters 1-18, or HPO Binding Description: (example): Multiple bindings accepted
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:mode-of-inheritance	SΣ	0..1	BackboneElement	Vererbungsmodus
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
Slices for extension				Content/Rules for all slices
extension:workflow-relatedArtifactComponent		0..*	RelatedArtifact	Related Artifact for Observation component URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	condition-inheritance 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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: condition-inheritance
display		0..1	string	Representation defined by the system
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]	Σ	1..1	CodeableConcept	Autosomal dominant | Autosomal recessive | X-linked | ... (more) Binding: Condition Inheritance Patterns (preferred)
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
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Observation.meta.security	Base	extensible	SecurityLabels	📍4.0.1	FHIR Std.
Observation.meta.tag	Base	example	Common Tags	📍4.0.1	FHIR Std.
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.category:labCategory	Base	preferred	Observation Category Codes	📦4.0.1	FHIR Std.
Observation.category:geCategory	Base	preferred	Observation Category Codes	📦4.0.1	FHIR Std.
Observation.code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
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	example	SNOMED CT Body Structures	📦4.0.1	FHIR Std.
Observation.method	Base	example	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:conclusion-string.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:conclusion-string.​dataAbsentReason	Base	extensible	DataAbsentReason	📦4.0.1	FHIR Std.
Observation.component:conclusion-string.​interpretation	Base	extensible	Observation Interpretation Codes	📦4.0.1	FHIR Std.
Observation.component:evidence-level.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:evidence-level.​value[x]	Base	example	Evidence Level Examples	📦3.0.0	Genomics Reporting Implementation Guide v3.0
Observation.component:evidence-level.​dataAbsentReason	Base	extensible	DataAbsentReason	📦4.0.1	FHIR Std.
Observation.component:evidence-level.​interpretation	Base	extensible	Observation Interpretation Codes	📦4.0.1	FHIR Std.
Observation.component:clinical-significance.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:clinical-significance.​value[x]	Base	example	LOINC Answer Codes for LL4034-6	∅	unknown?
Observation.component:clinical-significance.​dataAbsentReason	Base	extensible	DataAbsentReason	📦4.0.1	FHIR Std.
Observation.component:clinical-significance.​interpretation	Base	extensible	Observation Interpretation Codes	📦4.0.1	FHIR Std.
Observation.component:predicted-phenotype.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:predicted-phenotype.​value[x]	Base	example		Not State	Unknown
Observation.component:predicted-phenotype.​dataAbsentReason	Base	extensible	DataAbsentReason	📦4.0.1	FHIR Std.
Observation.component:predicted-phenotype.​interpretation	Base	extensible	Observation Interpretation Codes	📦4.0.1	FHIR Std.
Observation.component:mode-of-inheritance.​code	Base	example	LOINC Codes	📦4.0.1	FHIR Std.
Observation.component:mode-of-inheritance.​value[x]	Base	preferred	Condition Inheritance Patterns	📦3.0.0	Genomics Reporting Implementation Guide v3.0
Observation.component:mode-of-inheritance.​dataAbsentReason	Base	extensible	DataAbsentReason	📦4.0.1	FHIR Std.
Observation.component:mode-of-inheritance.​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

Must-Support: 3 elements

Structures

This structure refers to these other structures:

• MII PR Onkologie Diagnose Primärtumor (https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-diagnose-primaertumor)
• MII PR MTB Diagnose Primärtumor (https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-diagnose-primaertumor)