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 Molekulargenetischer Befundbericht

Offizielle URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht Version: 2027.0.0-ballot.1
Active Stand: 2026-09-13 Maschinenlesbarer Name: MII_PR_MolGen_MolekulargenetischerBefundbericht

Der DiagnosticReport ist zentraler Bestandteil aller genetischen Befundberichte und enthält Metadaten über den gesamten Bericht sowie alle relevanten Informationen, die im Rahmen der molekulargenetischen Analyse gefunden wurden.

Beschreibung

Dieses Profil beschreibt molekulargenetischen Befundbericht der Medizininformatik-Initiative.

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

Für den Use Case, dass die EBM Abrechnungsziffern in einem Befund angegeben werden,
wird die Supporting Information Extension in DiagnosticReport.extension mit Reference auf ChargeItem Ressource verwendet.
Ein passendes Profil für ChargeItem kann aus den deutschen FHIR Basisprofilen verwendet werden.

Profil

Extensions

Genomics Artifact

  • Name: Genomics Artifact
  • Definition: Erfasst Zitate, Beweise und andere unterstützende Unterlagen für die Beobachtung oder den Bericht.
  • url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact

Genomics File

  • Name: Genomics File
  • Definition: Wird verwendet, um den Inhalt von oder Links zu Dateien zu übermitteln, die als Teil des Testprozesses erstellt wurden. Beispiele sind VCF-, BAM-, CRAM- und andere ähnliche Dateien.
  • url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file

Empfohlene Maßnahme

  • Name: Empfohlene Maßnahme
  • Definition: Die Extension verweist auf eine vorgeschlagene Maßnahme, die auf der Grundlage der Ergebnisse des Befundberichts empfohlen wird.
  • url: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme

Genomics Risk Assessment

  • Name: Genomics Risk Assessment
  • Definition: RiskAssessment als Teil eines genomischen Berichtes oder einer Beobachtung.
  • url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment

Coded Note

  • Name: Coded Note
  • Definition: Kommentare zum Bericht, die auch einen kodierten Typ enthalten.
  • url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note

Supporting Info

  • Name: Supporting Info
  • Definition: Weitere Informationen, die für diese Beobachtung relevant sein könnten.
  • url: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
FHIR-Element Logischer Datensatz
DiagnosticReport.status Weiteres.Berichtstatus
DiagnosticReport.issued Weiteres.Datum des Berichts
DiagnosticReport.performer Weiteres.Labor / Institution/ Ansprechpartner
DiagnosticReport.resultsInterpreter Weiteres.Labor / Institution/ Ansprechpartner
DiagnosticReport.media Ergebnisse.Daten
DiagnosticReport.media Weiteres.Anhänge
DiagnosticReport.subject Probeninformationen.Patient
DiagnosticReport.specimen Probeninformationen.Probe
DiagnosticReport.identifier Weiteres.Bericht ID
DiagnosticReport.extension:supporting-info(ChargeItem) Anforderung.Einheitlicher Bewertungsmaßstab
DiagnosticReport.supporting-info Methoden.Relevante Parameter

Examples

Befundbericht-1 BRAF

Befundbericht-2 NIPBL

Die in Befundbericht-2 abzurechnenden EBM-Ziffern werden separat in ChargeItem Ressourcen erfasst.

Befundbericht-3 Risk-Panel

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
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... extension:recommended-action S 0..* Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme) Empfohlene Maßnahme
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action profiled by https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme
.... extension:genomic-risk-assessment S 0..* Reference(RiskAssessment) Genomische Risikobewertung
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
.... extension:coded-note S 0..* CodedAnnotation Kodierte Anmerkung
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note
.... extension:supporting-info S 0..* Reference(Resource) Unterstützende Informationen
URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
.... extension:genomic-study S 0..* Reference(Genomic Study) Genomische Studie
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference
.... extension:hla-genotyping-results-allele-database 0..1 CodeableConcept Allele Database
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database
.... extension:hla-genotyping-results-glstring 0..1 (Complex) glstring
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring
.... extension:workflow-relatedArtifact S 0..* RelatedArtifact Verknüpfte Artefakte
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... Slices for category Σ 1..* CodeableConcept Service category
Slice: Unordered, Open by value:coding
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
.... category:Genetics Σ 1..1 CodeableConcept Service category
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
..... 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 Σ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
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: 51969-4
..... 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
... subject SΣ 1..1 Reference(Patient | Group) Patient
... encounter SΣ 0..1 Reference(Encounter) Kontakt
... issued SΣ 0..1 instant Freigabedatum
... performer SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Durchführende Stelle
... resultsInterpreter SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Befundinterpreter
... specimen S 0..* Reference(Specimen) Probe
... Slices for result S 0..* Reference(Observation) Ergebnis
Slice: Unordered, Open by profile:resolve()
.... result:diagnostic-implication S 0..* Reference(MII PR MolGen Diagnostische Implikation) Diagnostische Implikation
.... result:therapeutic-implication S 0..* Reference(MII PR MolGen Therapeutische Implikation) Therapeutische Implikation
.... result:molecular-consequence 0..* Reference(Molecular Consequence) Molecular Consequence
.... result:variant S 0..* Reference(MII PR MolGen Variante) Variante
.... result:sequence-phase-relation S 0..* Reference(Sequence Phase Relationship) Sequenz-Phasen-Beziehung
.... result:genotype S 0..* Reference(MII PR MolGen Genotyp) Genotyp
.... result:haplotype S 0..* Reference(Haplotype) Haplotyp
.... result:biomarker S 0..* Reference(MII PR MolGen Molekularer Biomarker) Biomarker
... media SΣ 0..* BackboneElement Medien
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... link Σ 1..1 Reference(Media) Reference to the image source
... conclusion S 0..1 string Schlussfolgerung
... conclusionCode S 0..* CodeableConcept Schlussfolgerungscode
Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report.

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
DiagnosticReport.status Base required DiagnosticReportStatus 📍4.0.1 FHIR Std.
DiagnosticReport.category Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.category:Genetics Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.code Base preferred LOINC Diagnostic Report Codes 📦4.0.1 FHIR Std.
DiagnosticReport.conclusionCode Base example SNOMED CT Clinical Findings 📦4.0.1 FHIR Std.

Constraints

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

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... Slices for extension Content/Rules for all slices
.... extension:recommended-action S 0..* Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme) Empfohlene Maßnahme
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action profiled by https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme
.... extension:genomic-risk-assessment S 0..* GenomicRiskAssessment Genomische Risikobewertung
.... extension:coded-note S 0..* GenomicReportNote Kodierte Anmerkung
.... extension:supporting-info S 0..* SupportingInfo(5.3.0) Unterstützende Informationen
.... extension:genomic-study S 0..* GenomicStudyReference Genomische Studie
.... extension:workflow-relatedArtifact S 0..* RelatedArtifact(5.3.0) Verknüpfte Artefakte
... status S 1..1 code Status
... subject S 1..1 Reference(Patient | Group) Patient
... issued S 0..1 instant Freigabedatum
... performer S 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Durchführende Stelle
... resultsInterpreter S 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Befundinterpreter
... specimen S 0..* Reference(Specimen) Probe
... result S 0..* Reference(Observation) Ergebnis
... Slices for result Content/Rules for all slices
.... result:diagnostic-implication S 0..* Reference(MII PR MolGen Diagnostische Implikation) Diagnostische Implikation
.... result:therapeutic-implication S 0..* Reference(MII PR MolGen Therapeutische Implikation) Therapeutische Implikation
.... result:variant S 0..* Reference(MII PR MolGen Variante) Variante
.... result:sequence-phase-relation S 0..* Reference(Sequence Phase Relationship) Sequenz-Phasen-Beziehung
.... result:genotype S 0..* Reference(MII PR MolGen Genotyp) Genotyp
.... result:haplotype S 0..* Reference(Haplotype) Haplotyp
.... result:biomarker S 0..* Reference(MII PR MolGen Molekularer Biomarker) Biomarker
... media S 0..* BackboneElement Medien
... conclusion S 0..1 string Schlussfolgerung
... conclusionCode S 0..* CodeableConcept Schlussfolgerungscode

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... 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:recommended-action S 0..* Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme) Empfohlene Maßnahme
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action profiled by https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme
.... extension:genomic-risk-assessment S 0..* Reference(RiskAssessment) Genomische Risikobewertung
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
.... extension:coded-note S 0..* CodedAnnotation Kodierte Anmerkung
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note
.... extension:supporting-info S 0..* Reference(Resource) Unterstützende Informationen
URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
.... extension:genomic-study S 0..* Reference(Genomic Study) Genomische Studie
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference
.... extension:hla-genotyping-results-allele-database 0..1 CodeableConcept Allele Database
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database
.... extension:hla-genotyping-results-glstring 0..1 (Complex) glstring
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring
.... extension:workflow-relatedArtifact S 0..* RelatedArtifact Verknüpfte Artefakte
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business identifier for report
... basedOn 0..* Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) What was requested
... status ?!SΣ 1..1 code Status
Binding: DiagnosticReportStatus (required): The status of the diagnostic report.
... Slices for category Σ 1..* CodeableConcept Service category
Slice: Unordered, Open by value:coding
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
.... category:Genetics Σ 1..1 CodeableConcept Service category
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
..... 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 Σ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
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: 51969-4
..... 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
... subject SΣ 1..1 Reference(Patient | Group) Patient
... encounter SΣ 0..1 Reference(Encounter) Kontakt
... effective[x] Σ 0..1 dateTime Clinically relevant time/time-period for report
... issued SΣ 0..1 instant Freigabedatum
... performer SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Durchführende Stelle
... resultsInterpreter SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Befundinterpreter
... specimen S 0..* Reference(Specimen) Probe
... Slices for result S 0..* Reference(Observation) Ergebnis
Slice: Unordered, Open by profile:resolve()
.... result:diagnostic-implication S 0..* Reference(MII PR MolGen Diagnostische Implikation) Diagnostische Implikation
.... result:therapeutic-implication S 0..* Reference(MII PR MolGen Therapeutische Implikation) Therapeutische Implikation
.... result:molecular-consequence 0..* Reference(Molecular Consequence) Molecular Consequence
.... result:variant S 0..* Reference(MII PR MolGen Variante) Variante
.... result:sequence-phase-relation S 0..* Reference(Sequence Phase Relationship) Sequenz-Phasen-Beziehung
.... result:genotype S 0..* Reference(MII PR MolGen Genotyp) Genotyp
.... result:haplotype S 0..* Reference(Haplotype) Haplotyp
.... result:biomarker S 0..* Reference(MII PR MolGen Molekularer Biomarker) Biomarker
... imagingStudy 0..* Reference(ImagingStudy) Reference to full details of imaging associated with the diagnostic report
... media SΣ 0..* BackboneElement Medien
.... 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
.... comment 0..1 string Comment about the image (e.g. explanation)
.... link Σ 1..1 Reference(Media) Reference to the image source
... conclusion S 0..1 string Schlussfolgerung
... conclusionCode S 0..* CodeableConcept Schlussfolgerungscode
Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report.
... presentedForm 0..* Attachment Entire report as issued

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
DiagnosticReport.language Base preferred Common Languages 📦4.0.1 FHIR Std.
DiagnosticReport.status Base required DiagnosticReportStatus 📍4.0.1 FHIR Std.
DiagnosticReport.category Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.category:Genetics Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.code Base preferred LOINC Diagnostic Report Codes 📦4.0.1 FHIR Std.
DiagnosticReport.conclusionCode Base example SNOMED CT Clinical Findings 📦4.0.1 FHIR Std.

Constraints

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

Schlüsselelemente-Ansicht

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... extension:recommended-action S 0..* Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme) Empfohlene Maßnahme
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action profiled by https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme
.... extension:genomic-risk-assessment S 0..* Reference(RiskAssessment) Genomische Risikobewertung
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
.... extension:coded-note S 0..* CodedAnnotation Kodierte Anmerkung
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note
.... extension:supporting-info S 0..* Reference(Resource) Unterstützende Informationen
URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
.... extension:genomic-study S 0..* Reference(Genomic Study) Genomische Studie
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference
.... extension:hla-genotyping-results-allele-database 0..1 CodeableConcept Allele Database
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database
.... extension:hla-genotyping-results-glstring 0..1 (Complex) glstring
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring
.... extension:workflow-relatedArtifact S 0..* RelatedArtifact Verknüpfte Artefakte
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... Slices for category Σ 1..* CodeableConcept Service category
Slice: Unordered, Open by value:coding
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
.... category:Genetics Σ 1..1 CodeableConcept Service category
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
..... 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 Σ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
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: 51969-4
..... 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
... subject SΣ 1..1 Reference(Patient | Group) Patient
... encounter SΣ 0..1 Reference(Encounter) Kontakt
... issued SΣ 0..1 instant Freigabedatum
... performer SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Durchführende Stelle
... resultsInterpreter SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Befundinterpreter
... specimen S 0..* Reference(Specimen) Probe
... Slices for result S 0..* Reference(Observation) Ergebnis
Slice: Unordered, Open by profile:resolve()
.... result:diagnostic-implication S 0..* Reference(MII PR MolGen Diagnostische Implikation) Diagnostische Implikation
.... result:therapeutic-implication S 0..* Reference(MII PR MolGen Therapeutische Implikation) Therapeutische Implikation
.... result:molecular-consequence 0..* Reference(Molecular Consequence) Molecular Consequence
.... result:variant S 0..* Reference(MII PR MolGen Variante) Variante
.... result:sequence-phase-relation S 0..* Reference(Sequence Phase Relationship) Sequenz-Phasen-Beziehung
.... result:genotype S 0..* Reference(MII PR MolGen Genotyp) Genotyp
.... result:haplotype S 0..* Reference(Haplotype) Haplotyp
.... result:biomarker S 0..* Reference(MII PR MolGen Molekularer Biomarker) Biomarker
... media SΣ 0..* BackboneElement Medien
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... link Σ 1..1 Reference(Media) Reference to the image source
... conclusion S 0..1 string Schlussfolgerung
... conclusionCode S 0..* CodeableConcept Schlussfolgerungscode
Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report.

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
DiagnosticReport.status Base required DiagnosticReportStatus 📍4.0.1 FHIR Std.
DiagnosticReport.category Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.category:Genetics Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.code Base preferred LOINC Diagnostic Report Codes 📦4.0.1 FHIR Std.
DiagnosticReport.conclusionCode Base example SNOMED CT Clinical Findings 📦4.0.1 FHIR Std.

Constraints

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

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... Slices for extension Content/Rules for all slices
.... extension:recommended-action S 0..* Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme) Empfohlene Maßnahme
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action profiled by https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme
.... extension:genomic-risk-assessment S 0..* GenomicRiskAssessment Genomische Risikobewertung
.... extension:coded-note S 0..* GenomicReportNote Kodierte Anmerkung
.... extension:supporting-info S 0..* SupportingInfo(5.3.0) Unterstützende Informationen
.... extension:genomic-study S 0..* GenomicStudyReference Genomische Studie
.... extension:workflow-relatedArtifact S 0..* RelatedArtifact(5.3.0) Verknüpfte Artefakte
... status S 1..1 code Status
... subject S 1..1 Reference(Patient | Group) Patient
... issued S 0..1 instant Freigabedatum
... performer S 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Durchführende Stelle
... resultsInterpreter S 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Befundinterpreter
... specimen S 0..* Reference(Specimen) Probe
... result S 0..* Reference(Observation) Ergebnis
... Slices for result Content/Rules for all slices
.... result:diagnostic-implication S 0..* Reference(MII PR MolGen Diagnostische Implikation) Diagnostische Implikation
.... result:therapeutic-implication S 0..* Reference(MII PR MolGen Therapeutische Implikation) Therapeutische Implikation
.... result:variant S 0..* Reference(MII PR MolGen Variante) Variante
.... result:sequence-phase-relation S 0..* Reference(Sequence Phase Relationship) Sequenz-Phasen-Beziehung
.... result:genotype S 0..* Reference(MII PR MolGen Genotyp) Genotyp
.... result:haplotype S 0..* Reference(Haplotype) Haplotyp
.... result:biomarker S 0..* Reference(MII PR MolGen Molekularer Biomarker) Biomarker
... media S 0..* BackboneElement Medien
... conclusion S 0..1 string Schlussfolgerung
... conclusionCode S 0..* CodeableConcept Schlussfolgerungscode

doco Documentation for this format

Snapshot-AnsichtView

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. DiagnosticReport 0..* GenomicReport A Diagnostic report - a combination of request information, atomic results, images, interpretation, as well as formatted reports
... 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:recommended-action S 0..* Reference(MII PR MolGen Medikationsempfehlung | MII PR MolGen Empfohlene Folgemaßnahme) Empfohlene Maßnahme
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action profiled by https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme
.... extension:genomic-risk-assessment S 0..* Reference(RiskAssessment) Genomische Risikobewertung
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment
.... extension:coded-note S 0..* CodedAnnotation Kodierte Anmerkung
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note
.... extension:supporting-info S 0..* Reference(Resource) Unterstützende Informationen
URL: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
.... extension:genomic-study S 0..* Reference(Genomic Study) Genomische Studie
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference
.... extension:hla-genotyping-results-allele-database 0..1 CodeableConcept Allele Database
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database
.... extension:hla-genotyping-results-glstring 0..1 (Complex) glstring
URL: http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring
.... extension:workflow-relatedArtifact S 0..* RelatedArtifact Verknüpfte Artefakte
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business identifier for report
... basedOn 0..* Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) What was requested
... status ?!SΣ 1..1 code Status
Binding: DiagnosticReportStatus (required): The status of the diagnostic report.
... Slices for category Σ 1..* CodeableConcept Service category
Slice: Unordered, Open by value:coding
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
.... category:Genetics Σ 1..1 CodeableConcept Service category
Binding: DiagnosticServiceSectionCodes (example): Codes for diagnostic service sections.
..... 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 Σ 1..1 CodeableConcept Name/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred): Codes that describe Diagnostic Reports.
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: 51969-4
..... 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
... subject SΣ 1..1 Reference(Patient | Group) Patient
... encounter SΣ 0..1 Reference(Encounter) Kontakt
... effective[x] Σ 0..1 dateTime Clinically relevant time/time-period for report
... issued SΣ 0..1 instant Freigabedatum
... performer SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Durchführende Stelle
... resultsInterpreter SΣ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam) Befundinterpreter
... specimen S 0..* Reference(Specimen) Probe
... Slices for result S 0..* Reference(Observation) Ergebnis
Slice: Unordered, Open by profile:resolve()
.... result:diagnostic-implication S 0..* Reference(MII PR MolGen Diagnostische Implikation) Diagnostische Implikation
.... result:therapeutic-implication S 0..* Reference(MII PR MolGen Therapeutische Implikation) Therapeutische Implikation
.... result:molecular-consequence 0..* Reference(Molecular Consequence) Molecular Consequence
.... result:variant S 0..* Reference(MII PR MolGen Variante) Variante
.... result:sequence-phase-relation S 0..* Reference(Sequence Phase Relationship) Sequenz-Phasen-Beziehung
.... result:genotype S 0..* Reference(MII PR MolGen Genotyp) Genotyp
.... result:haplotype S 0..* Reference(Haplotype) Haplotyp
.... result:biomarker S 0..* Reference(MII PR MolGen Molekularer Biomarker) Biomarker
... imagingStudy 0..* Reference(ImagingStudy) Reference to full details of imaging associated with the diagnostic report
... media SΣ 0..* BackboneElement Medien
.... 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
.... comment 0..1 string Comment about the image (e.g. explanation)
.... link Σ 1..1 Reference(Media) Reference to the image source
... conclusion S 0..1 string Schlussfolgerung
... conclusionCode S 0..* CodeableConcept Schlussfolgerungscode
Binding: SNOMEDCTClinicalFindings (example): Diagnosis codes provided as adjuncts to the report.
... presentedForm 0..* Attachment Entire report as issued

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
DiagnosticReport.language Base preferred Common Languages 📦4.0.1 FHIR Std.
DiagnosticReport.status Base required DiagnosticReportStatus 📍4.0.1 FHIR Std.
DiagnosticReport.category Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.category:Genetics Base example Diagnostic Service Section Codes 📦4.0.1 FHIR Std.
DiagnosticReport.code Base preferred LOINC Diagnostic Report Codes 📦4.0.1 FHIR Std.
DiagnosticReport.conclusionCode Base example SNOMED CT Clinical Findings 📦4.0.1 FHIR Std.

Constraints

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

 

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