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

MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions

Resource Profile: MII PR MolGen Genomic Study Analysis

Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis Version: 2027.0.0-ballot.1
Active as of 2026-09-13 Computable 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.


Description

This profile describes a Genomic Study Analysis as a Procedure resource for the detailed documentation of the analysis steps within a genomic investigation. It works in conjunction with the GenomicStudy profile and follows the requirements of Clinical Genomics Reporting STU3.

GenomicStudyAnalysis records specific analysis parameters such as the genome regions investigated, the reference assemblies used and the analysis tools.


The profile is derived from the profile GenomicStudyAnalysis of the HL7 Genomics Reporting Implementation Guide STU3.


Profile


Must Support elements

FHIR element Meaning Logical data set
Procedure.extension:specimen Reference to the specimen used Probeninformation.Probe
Procedure.extension:device Analysis device used (sequencer, software) Methoden.Geräte / Software
Procedure.extension:method-type Type of analysis method (e.g. sequencing, PCR) Methoden.Analysetyp
Procedure.extension:change-type Types of variation investigated (SNV, CNV, etc.) Methoden.Variationstypen
Procedure.extension:regions Genomic regions investigated (genes, exons) Methoden.Untersuchte Regionen
Procedure.extension:genome-build Version of the reference genome (e.g. GRCh38) Methoden.Referenzgenom
Procedure.extension:focus Focus/target of the analysis Methoden.Analysefokus
Procedure.extension:title Designation of the analysis Methoden.Analysebezeichnung
Procedure.extension:metrics Quality metrics (coverage, depth) Methoden.Qualitätsmetriken

Examples

Example 1: GenomicStudyAnalysis for exome sequencing


Usages:

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

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

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. 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()

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()

Summary

Must-Support: 9 elements

Key Elements View

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 View

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 ViewView

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()

Summary

Must-Support: 9 elements

 

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