MII IG Kerndatensatz-Modul Molekulares Tumorboard
2026.0.0 - release Unknown region code '276'

MII IG Kerndatensatz-Modul Molekulares Tumorboard, published by Medizininformatik-Initiative. This guide is not an authorized publication; it is the continuous build for version 2026.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/medizininformatik-initiative/kerndatensatzmodul-molekulares-tumorboard/ and changes regularly. See the Directory of published versions

Resource Profile: MII PR MTB Diagnostische Implikation

Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-diagnostische-implikation Version: 2026.0.0
Active as of 2026-02-09 Computable Name: MII_PR_MTB_Diagnostische_Implikation

Beschreibt den Zusammenhang zwischen einem oder mehreren Genotyp/Haplotyp/Varianten und Beweisen für oder gegen eine bestimmte Krankheit.

Usages:

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots and how the different presentations work.

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* MII_PR_MolGen_DiagnostischeImplikation Diagnostic Implication
Constraints: obs-7, obs-6
... 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: GeneticObservationSecondaryFindings (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
... 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 SΣC 0..1 Reference(Patient | Group) Patient
Constraints: ref-1
... focus SΣC 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
Constraints: ref-1
... encounter SΣC 0..1 Reference(Encounter) Kontakt
Constraints: ref-1
... effective[x] SΣ 0..1 Zeitpunkt der Beobachtung
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued SΣ 0..1 instant Freigabedatum
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
... Slices for derivedFrom SΣC 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Abgeleitet von
Slice: Unordered, Open by profile:resolve()
Constraints: ref-1
.... derivedFrom:variant ΣC 0..* Reference(MII PR MolGen Variante) Variant the implication is derived from
Constraints: ref-1
.... derivedFrom:genotype ΣC 0..* Reference(Genotype) Genotype the implication is derived from
Constraints: ref-1
.... derivedFrom:haplotype ΣC 0..* Reference(Haplotype) Haplotype the implication is derived from
Constraints: ref-1
.... derivedFrom:biomarker ΣC 0..* Reference(Molecular Biomarker) MolecularBiomarker the implication is derived from
Constraints: ref-1
... 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.
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... 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
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... 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
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... 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)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... 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
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... 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)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

doco 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.dataAbsentReason Base extensible DataAbsentReason 📦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: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: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: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: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: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.

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()
ref-1 error Observation.subject, Observation.focus, Observation.encounter, Observation.derivedFrom, Observation.derivedFrom:variant, Observation.derivedFrom:genotype, Observation.derivedFrom:haplotype, Observation.derivedFrom:biomarker SHALL have a contained resource if a local reference is provided reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))

This structure is derived from MII_PR_MolGen_DiagnostischeImplikation

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. 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

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* MII_PR_MolGen_DiagnostischeImplikation Diagnostic Implication
Constraints: obs-7, obs-6
... 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 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
... Slices for extension 0..* Extension Additional content defined by implementations
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: GeneticObservationSecondaryFindings (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
Slice: Unordered, Open by value:url
... identifier Σ 0..* Identifier Business Identifier for observation
... basedOn ΣC 0..* Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) Fulfills plan, proposal or order
Constraints: ref-1
... partOf ΣC 0..* Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy | Genomic Study) Part of referenced event
Constraints: ref-1
... 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 SΣC 0..1 Reference(Patient | Group) Patient
Constraints: ref-1
... focus SΣC 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
Constraints: ref-1
... encounter SΣC 0..1 Reference(Encounter) Kontakt
Constraints: ref-1
... effective[x] SΣ 0..1 Zeitpunkt der Beobachtung
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued SΣ 0..1 instant Freigabedatum
... performer ΣC 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
Constraints: ref-1
... 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 C 0..1 Reference(Specimen) Specimen used for this observation
Constraints: ref-1
... device C 0..1 Reference(Device | DeviceMetric) (Measurement) Device
Constraints: ref-1
... 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
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... low C 0..1 SimpleQuantity Low Range, if relevant
Constraints: qty-3, sqty-1
.... high C 0..1 SimpleQuantity High Range, if relevant
Constraints: qty-3, sqty-1
.... 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 C 0..1 Range Applicable age range, if relevant
Constraints: rng-2
.... text 0..1 string Text based reference range in an observation
... hasMember ΣC 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Related resource that belongs to the Observation group
Constraints: ref-1
... Slices for derivedFrom SΣC 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Abgeleitet von
Slice: Unordered, Open by profile:resolve()
Constraints: ref-1
.... derivedFrom:variant ΣC 0..* Reference(MII PR MolGen Variante) Variant the implication is derived from
Constraints: ref-1
.... derivedFrom:genotype ΣC 0..* Reference(Genotype) Genotype the implication is derived from
Constraints: ref-1
.... derivedFrom:haplotype ΣC 0..* Reference(Haplotype) Haplotype the implication is derived from
Constraints: ref-1
.... derivedFrom:biomarker ΣC 0..* Reference(Molecular Biomarker) MolecularBiomarker the implication is derived from
Constraints: ref-1
... 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 Additional content defined by implementations
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
Slice: Unordered, Open by value:url
..... 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
Slice: Unordered, Open by value:url
..... 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 Additional content defined by implementations
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 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 Additional content defined by implementations
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 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 Additional content defined by implementations
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 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

doco 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()
qty-3 error Observation.referenceRange.low, Observation.referenceRange.high If a code for the unit is present, the system SHALL also be present code.empty() or system.exists()
ref-1 error Observation.basedOn, Observation.partOf, Observation.subject, Observation.focus, Observation.encounter, Observation.performer, Observation.specimen, Observation.device, Observation.hasMember, Observation.derivedFrom, Observation.derivedFrom:variant, Observation.derivedFrom:genotype, Observation.derivedFrom:haplotype, Observation.derivedFrom:biomarker SHALL have a contained resource if a local reference is provided reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))
rng-2 error Observation.referenceRange.age If present, low SHALL have a lower value than high low.empty() or high.empty() or (low <= high)
sqty-1 error Observation.referenceRange.low, Observation.referenceRange.high The comparator is not used on a SimpleQuantity comparator.empty()

Key Elements View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* MII_PR_MolGen_DiagnostischeImplikation Diagnostic Implication
Constraints: obs-7, obs-6
... 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: GeneticObservationSecondaryFindings (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
... 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 SΣC 0..1 Reference(Patient | Group) Patient
Constraints: ref-1
... focus SΣC 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
Constraints: ref-1
... encounter SΣC 0..1 Reference(Encounter) Kontakt
Constraints: ref-1
... effective[x] SΣ 0..1 Zeitpunkt der Beobachtung
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued SΣ 0..1 instant Freigabedatum
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
... Slices for derivedFrom SΣC 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Abgeleitet von
Slice: Unordered, Open by profile:resolve()
Constraints: ref-1
.... derivedFrom:variant ΣC 0..* Reference(MII PR MolGen Variante) Variant the implication is derived from
Constraints: ref-1
.... derivedFrom:genotype ΣC 0..* Reference(Genotype) Genotype the implication is derived from
Constraints: ref-1
.... derivedFrom:haplotype ΣC 0..* Reference(Haplotype) Haplotype the implication is derived from
Constraints: ref-1
.... derivedFrom:biomarker ΣC 0..* Reference(Molecular Biomarker) MolecularBiomarker the implication is derived from
Constraints: ref-1
... 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.
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... 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
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... 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
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... 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)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... 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
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... 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)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

doco 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.dataAbsentReason Base extensible DataAbsentReason 📦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: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: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: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: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: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.

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()
ref-1 error Observation.subject, Observation.focus, Observation.encounter, Observation.derivedFrom, Observation.derivedFrom:variant, Observation.derivedFrom:genotype, Observation.derivedFrom:haplotype, Observation.derivedFrom:biomarker SHALL have a contained resource if a local reference is provided reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))

Differential View

This structure is derived from MII_PR_MolGen_DiagnostischeImplikation

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. 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

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* MII_PR_MolGen_DiagnostischeImplikation Diagnostic Implication
Constraints: obs-7, obs-6
... 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 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
... Slices for extension 0..* Extension Additional content defined by implementations
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: GeneticObservationSecondaryFindings (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
Slice: Unordered, Open by value:url
... identifier Σ 0..* Identifier Business Identifier for observation
... basedOn ΣC 0..* Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) Fulfills plan, proposal or order
Constraints: ref-1
... partOf ΣC 0..* Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy | Genomic Study) Part of referenced event
Constraints: ref-1
... 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 SΣC 0..1 Reference(Patient | Group) Patient
Constraints: ref-1
... focus SΣC 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
Constraints: ref-1
... encounter SΣC 0..1 Reference(Encounter) Kontakt
Constraints: ref-1
... effective[x] SΣ 0..1 Zeitpunkt der Beobachtung
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued SΣ 0..1 instant Freigabedatum
... performer ΣC 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
Constraints: ref-1
... 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 C 0..1 Reference(Specimen) Specimen used for this observation
Constraints: ref-1
... device C 0..1 Reference(Device | DeviceMetric) (Measurement) Device
Constraints: ref-1
... 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
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... low C 0..1 SimpleQuantity Low Range, if relevant
Constraints: qty-3, sqty-1
.... high C 0..1 SimpleQuantity High Range, if relevant
Constraints: qty-3, sqty-1
.... 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 C 0..1 Range Applicable age range, if relevant
Constraints: rng-2
.... text 0..1 string Text based reference range in an observation
... hasMember ΣC 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Related resource that belongs to the Observation group
Constraints: ref-1
... Slices for derivedFrom SΣC 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Abgeleitet von
Slice: Unordered, Open by profile:resolve()
Constraints: ref-1
.... derivedFrom:variant ΣC 0..* Reference(MII PR MolGen Variante) Variant the implication is derived from
Constraints: ref-1
.... derivedFrom:genotype ΣC 0..* Reference(Genotype) Genotype the implication is derived from
Constraints: ref-1
.... derivedFrom:haplotype ΣC 0..* Reference(Haplotype) Haplotype the implication is derived from
Constraints: ref-1
.... derivedFrom:biomarker ΣC 0..* Reference(Molecular Biomarker) MolecularBiomarker the implication is derived from
Constraints: ref-1
... 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 Additional content defined by implementations
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
Slice: Unordered, Open by value:url
..... 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
Slice: Unordered, Open by value:url
..... 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 Additional content defined by implementations
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 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 Additional content defined by implementations
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 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 Additional content defined by implementations
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 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

doco 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()
qty-3 error Observation.referenceRange.low, Observation.referenceRange.high If a code for the unit is present, the system SHALL also be present code.empty() or system.exists()
ref-1 error Observation.basedOn, Observation.partOf, Observation.subject, Observation.focus, Observation.encounter, Observation.performer, Observation.specimen, Observation.device, Observation.hasMember, Observation.derivedFrom, Observation.derivedFrom:variant, Observation.derivedFrom:genotype, Observation.derivedFrom:haplotype, Observation.derivedFrom:biomarker SHALL have a contained resource if a local reference is provided reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))
rng-2 error Observation.referenceRange.age If present, low SHALL have a lower value than high low.empty() or high.empty() or (low <= high)
sqty-1 error Observation.referenceRange.low, Observation.referenceRange.high The comparator is not used on a SimpleQuantity comparator.empty()

 

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