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

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Ressourcenprofil: MII PR MolGen Genomic Study Analysis

Offizielle URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis Version: 2027.0.0-ballot.1
Active Stand: 2026-09-13 Maschinenlesbarer Name: MII_PR_MolGen_GenomicStudyAnalysis

Genomic Study Analysis ist ein Profil, das die Durchführung von konkreten molekulargenetischen Methoden und Assays beschreibt. Es ist vom GenomicStudyAnalysis-Profil aus dem Genomics Reporting IG abgeleitet. Die Darstellung über GenomicStudyAnalysis ist präziser als die vorherige UntersuchteRegion, da sie eine klare Repräsentation ermöglicht, welche Regionen mit welchem Assay untersucht wurden und welche Bereiche callable bzw. nicht-callable waren. Dies ermöglicht eine genauere Qualitätsbewertung und Interpretation der Ergebnisse, insbesondere bei negativen Befunden.


Beschreibung

Dieses Profil beschreibt eine Genomic Study Analysis als Procedure-Ressource zur detaillierten Dokumentation der Analyseschritte innerhalb einer genomischen Untersuchung. Es arbeitet in Verbindung mit dem GenomicStudy-Profil und folgt den Vorgaben des Clinical Genomics Reporting STU3.

GenomicStudyAnalysis erfasst spezifische Analyseparameter wie untersuchte Genomregionen, verwendete Referenzassemblies und Analysetools.


Das Profil ist abgeleitet vom Profil GenomicStudyAnalysis aus HL7 Genomics Reporting Implementation Guide STU3.


Profil


Must Support Elemente

FHIR-Element Bedeutung Logischer Datensatz
Procedure.extension:specimen Referenz zur verwendeten Probe Probeninformation.Probe
Procedure.extension:device Verwendetes Analysegerät (Sequenzer, Software) Methoden.Geräte / Software
Procedure.extension:method-type Art der Analysemethode (z.B. Sequenzierung, PCR) Methoden.Analysetyp
Procedure.extension:change-type Untersuchte Variationstypen (SNV, CNV, etc.) Methoden.Variationstypen
Procedure.extension:regions Untersuchte genomische Regionen (Gene, Exons) Methoden.Untersuchte Regionen
Procedure.extension:genome-build Version des Referenzgenoms (z.B. GRCh38) Methoden.Referenzgenom
Procedure.extension:focus Fokus/Ziel der Analyse Methoden.Analysefokus
Procedure.extension:title Bezeichnung der Analyse Methoden.Analysebezeichnung
Procedure.extension:metrics Qualitätsmetriken (Coverage, Depth) Methoden.Qualitätsmetriken

Examples

Beispiel 1: GenomicStudyAnalysis für Exom-Sequenzierung


Usages:

You can also check for usages in the FHIR IG Statistics

Formale Ansichten des Profilinhalts

Beschreibung von Profilen, Differentials, Snapshots und deren Repräsentationen.

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudyAnalysis An action that is being or was performed on a patient
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... extension:method-type S 0..* CodeableConcept Analysemethode
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type
Binding: Genomic Study Method Type ValueSet (preferred)
.... extension:change-type S 0..* CodeableConcept Untersuchte Variationstypen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type
Binding: Genomic Study Change Type ValueSet (preferred)
.... extension:genome-build S 0..1 CodeableConcept Referenzgenom-Version
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build
Binding: LOINC Answer List LL1040-6 (extensible)
.... extension:genomic-source-class 0..1 CodeableConcept GenomicStudy.analysis.genomicSourceClass
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class
Binding: LOINC Answer List LL378-1 (extensible)
.... extension:title S 0..1 string Bezeichnung der Analyse
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title
.... extension:focus S 0..* Reference(Resource) Fokus der Analyse
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus
.... extension:specimen S 0..* Reference(Specimen) Untersuchte Probe
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen
.... extension:metrics S 0..1 (Complex) Qualitätsmetriken
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics
.... extension:regions S 0..1 (Complex) Untersuchte genomische Regionen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions
.... extension:device S 0..* (Complex) Verwendetes Analysegerät
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
.... extension:protocol-performed 0..1 Reference(Procedure | Task) GenomicStudy.protocolPerformed
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-protocol-performed
.... extension:input 0..* (Complex) GenomicStudy.analysis.input
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input
.... extension:output 0..* (Complex) GenomicStudy.analysis.output
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... category Σ 1..1 CodeableConcept Classification of the procedure
Binding: ProcedureCategoryCodes(SNOMEDCT) (example): A code that classifies a procedure for searching, sorting and display purposes.
.... 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
... subject Σ 1..1 Reference(Patient | Group) Who the procedure was performed on

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Procedure.status Base required EventStatus 📍4.0.1 FHIR Std.
Procedure.category Base example Procedure Category Codes (SNOMED CT) 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Procedure If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Procedure 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 Procedure 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 Procedure If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Procedure 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()

Diese Struktur ist abgeleitet von GenomicStudyAnalysis

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudyAnalysis An action that is being or was performed on a patient
... Slices for extension Content/Rules for all slices
.... extension:method-type S 0..* GenomicStudyAnalysisMethodType Analysemethode
.... extension:change-type S 0..* GenomicStudyAnalysisChangeType Untersuchte Variationstypen
.... extension:genome-build S 0..1 GenomicStudyAnalysisGenomeBuild Referenzgenom-Version
.... extension:title S 0..1 GenomicStudyAnalysisTitle Bezeichnung der Analyse
.... extension:focus S 0..* GenomicStudyAnalysisFocus Fokus der Analyse
.... extension:specimen S 0..* GenomicStudyAnalysisSpecimen Untersuchte Probe
.... extension:metrics S 0..1 GenomicStudyAnalysisMetrics Qualitätsmetriken
.... extension:regions S 0..1 GenomicStudyAnalysisRegions Untersuchte genomische Regionen
.... extension:device S 0..* GenomicStudyAnalysisDevice Verwendetes Analysegerät

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudyAnalysis An action that is being or was performed on a patient
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:method-type S 0..* CodeableConcept Analysemethode
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type
Binding: Genomic Study Method Type ValueSet (preferred)
.... extension:change-type S 0..* CodeableConcept Untersuchte Variationstypen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type
Binding: Genomic Study Change Type ValueSet (preferred)
.... extension:genome-build S 0..1 CodeableConcept Referenzgenom-Version
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build
Binding: LOINC Answer List LL1040-6 (extensible)
.... extension:genomic-source-class 0..1 CodeableConcept GenomicStudy.analysis.genomicSourceClass
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class
Binding: LOINC Answer List LL378-1 (extensible)
.... extension:title S 0..1 string Bezeichnung der Analyse
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title
.... extension:focus S 0..* Reference(Resource) Fokus der Analyse
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus
.... extension:specimen S 0..* Reference(Specimen) Untersuchte Probe
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen
.... extension:metrics S 0..1 (Complex) Qualitätsmetriken
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics
.... extension:regions S 0..1 (Complex) Untersuchte genomische Regionen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions
.... extension:device S 0..* (Complex) Verwendetes Analysegerät
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
.... extension:protocol-performed 0..1 Reference(Procedure | Task) GenomicStudy.protocolPerformed
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-protocol-performed
.... extension:input 0..* (Complex) GenomicStudy.analysis.input
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input
.... extension:output 0..* (Complex) GenomicStudy.analysis.output
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier GenomicStudy.analysis.identifier
... instantiatesCanonical Σ 0..* canonical(PlanDefinition | ActivityDefinition) GenomicStudy.analysis.instantiatesCanonical
... instantiatesUri Σ 0..* uri GenomicStudy.analysis.instantiatesUri
... status ?!Σ 1..1 code preparation | in-progress | not-done | on-hold | stopped | completed | entered-in-error | unknown
Binding: EventStatus (required): A code specifying the state of the procedure.
Required Pattern: completed
... category Σ 1..1 CodeableConcept Classification of the procedure
Binding: ProcedureCategoryCodes(SNOMEDCT) (example): A code that classifies a procedure for searching, sorting and display purposes.
.... 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
... subject Σ 1..1 Reference(Patient | Group) Who the procedure was performed on
... performed[x] Σ 0..1 dateTime GenomicStudy.analysis.date
... performer Σ 0..* BackboneElement The people who performed the procedure
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... function Σ 0..1 CodeableConcept GenomicStudy.analysis.performer.role
Binding: ProcedurePerformerRoleCodes (example): A code that identifies the role of a performer of the procedure.
.... actor Σ 1..1 Reference(Practitioner | PractitionerRole | Organization | Device) GenomicStudy.analysis.performer.actor
.... onBehalfOf 0..1 Reference(Organization) Organization the device or practitioner was acting for
... note 0..* Annotation GenomicStudy.analysis.note

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Procedure.language Base preferred Common Languages 📦4.0.1 FHIR Std.
Procedure.status Base required EventStatus 📍4.0.1 FHIR Std.
Procedure.category Base example Procedure Category Codes (SNOMED CT) 📦4.0.1 FHIR Std.
Procedure.performer.​function Base example Procedure Performer Role Codes 📦4.0.1 FHIR Std.
Procedure.focalDevice.​action Base preferred Procedure Device Action Codes 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Procedure If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Procedure 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 Procedure 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 Procedure If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Procedure 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()

Diese Struktur ist abgeleitet von GenomicStudyAnalysis

Summary

Must-Support: 9 elements

Schlüsselelemente-Ansicht

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudyAnalysis An action that is being or was performed on a patient
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... extension:method-type S 0..* CodeableConcept Analysemethode
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type
Binding: Genomic Study Method Type ValueSet (preferred)
.... extension:change-type S 0..* CodeableConcept Untersuchte Variationstypen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type
Binding: Genomic Study Change Type ValueSet (preferred)
.... extension:genome-build S 0..1 CodeableConcept Referenzgenom-Version
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build
Binding: LOINC Answer List LL1040-6 (extensible)
.... extension:genomic-source-class 0..1 CodeableConcept GenomicStudy.analysis.genomicSourceClass
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class
Binding: LOINC Answer List LL378-1 (extensible)
.... extension:title S 0..1 string Bezeichnung der Analyse
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title
.... extension:focus S 0..* Reference(Resource) Fokus der Analyse
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus
.... extension:specimen S 0..* Reference(Specimen) Untersuchte Probe
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen
.... extension:metrics S 0..1 (Complex) Qualitätsmetriken
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics
.... extension:regions S 0..1 (Complex) Untersuchte genomische Regionen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions
.... extension:device S 0..* (Complex) Verwendetes Analysegerät
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
.... extension:protocol-performed 0..1 Reference(Procedure | Task) GenomicStudy.protocolPerformed
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-protocol-performed
.... extension:input 0..* (Complex) GenomicStudy.analysis.input
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input
.... extension:output 0..* (Complex) GenomicStudy.analysis.output
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... category Σ 1..1 CodeableConcept Classification of the procedure
Binding: ProcedureCategoryCodes(SNOMEDCT) (example): A code that classifies a procedure for searching, sorting and display purposes.
.... 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
... subject Σ 1..1 Reference(Patient | Group) Who the procedure was performed on

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Procedure.status Base required EventStatus 📍4.0.1 FHIR Std.
Procedure.category Base example Procedure Category Codes (SNOMED CT) 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Procedure If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Procedure 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 Procedure 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 Procedure If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Procedure 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()

Differential-Ansicht

Diese Struktur ist abgeleitet von GenomicStudyAnalysis

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudyAnalysis An action that is being or was performed on a patient
... Slices for extension Content/Rules for all slices
.... extension:method-type S 0..* GenomicStudyAnalysisMethodType Analysemethode
.... extension:change-type S 0..* GenomicStudyAnalysisChangeType Untersuchte Variationstypen
.... extension:genome-build S 0..1 GenomicStudyAnalysisGenomeBuild Referenzgenom-Version
.... extension:title S 0..1 GenomicStudyAnalysisTitle Bezeichnung der Analyse
.... extension:focus S 0..* GenomicStudyAnalysisFocus Fokus der Analyse
.... extension:specimen S 0..* GenomicStudyAnalysisSpecimen Untersuchte Probe
.... extension:metrics S 0..1 GenomicStudyAnalysisMetrics Qualitätsmetriken
.... extension:regions S 0..1 GenomicStudyAnalysisRegions Untersuchte genomische Regionen
.... extension:device S 0..* GenomicStudyAnalysisDevice Verwendetes Analysegerät

doco Documentation for this format

Snapshot-AnsichtView

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudyAnalysis An action that is being or was performed on a patient
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:method-type S 0..* CodeableConcept Analysemethode
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type
Binding: Genomic Study Method Type ValueSet (preferred)
.... extension:change-type S 0..* CodeableConcept Untersuchte Variationstypen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type
Binding: Genomic Study Change Type ValueSet (preferred)
.... extension:genome-build S 0..1 CodeableConcept Referenzgenom-Version
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build
Binding: LOINC Answer List LL1040-6 (extensible)
.... extension:genomic-source-class 0..1 CodeableConcept GenomicStudy.analysis.genomicSourceClass
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class
Binding: LOINC Answer List LL378-1 (extensible)
.... extension:title S 0..1 string Bezeichnung der Analyse
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title
.... extension:focus S 0..* Reference(Resource) Fokus der Analyse
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus
.... extension:specimen S 0..* Reference(Specimen) Untersuchte Probe
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen
.... extension:metrics S 0..1 (Complex) Qualitätsmetriken
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics
.... extension:regions S 0..1 (Complex) Untersuchte genomische Regionen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions
.... extension:device S 0..* (Complex) Verwendetes Analysegerät
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
.... extension:protocol-performed 0..1 Reference(Procedure | Task) GenomicStudy.protocolPerformed
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-protocol-performed
.... extension:input 0..* (Complex) GenomicStudy.analysis.input
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input
.... extension:output 0..* (Complex) GenomicStudy.analysis.output
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier GenomicStudy.analysis.identifier
... instantiatesCanonical Σ 0..* canonical(PlanDefinition | ActivityDefinition) GenomicStudy.analysis.instantiatesCanonical
... instantiatesUri Σ 0..* uri GenomicStudy.analysis.instantiatesUri
... status ?!Σ 1..1 code preparation | in-progress | not-done | on-hold | stopped | completed | entered-in-error | unknown
Binding: EventStatus (required): A code specifying the state of the procedure.
Required Pattern: completed
... category Σ 1..1 CodeableConcept Classification of the procedure
Binding: ProcedureCategoryCodes(SNOMEDCT) (example): A code that classifies a procedure for searching, sorting and display purposes.
.... 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
... subject Σ 1..1 Reference(Patient | Group) Who the procedure was performed on
... performed[x] Σ 0..1 dateTime GenomicStudy.analysis.date
... performer Σ 0..* BackboneElement The people who performed the procedure
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... function Σ 0..1 CodeableConcept GenomicStudy.analysis.performer.role
Binding: ProcedurePerformerRoleCodes (example): A code that identifies the role of a performer of the procedure.
.... actor Σ 1..1 Reference(Practitioner | PractitionerRole | Organization | Device) GenomicStudy.analysis.performer.actor
.... onBehalfOf 0..1 Reference(Organization) Organization the device or practitioner was acting for
... note 0..* Annotation GenomicStudy.analysis.note

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Procedure.language Base preferred Common Languages 📦4.0.1 FHIR Std.
Procedure.status Base required EventStatus 📍4.0.1 FHIR Std.
Procedure.category Base example Procedure Category Codes (SNOMED CT) 📦4.0.1 FHIR Std.
Procedure.performer.​function Base example Procedure Performer Role Codes 📦4.0.1 FHIR Std.
Procedure.focalDevice.​action Base preferred Procedure Device Action Codes 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Procedure If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Procedure 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 Procedure 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 Procedure If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Procedure 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()

Diese Struktur ist abgeleitet von GenomicStudyAnalysis

Summary

Must-Support: 9 elements

 

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