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 Molekulargenetischer Befundbericht

Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht Version: 2027.0.0-ballot.1
Active as of 2026-09-13 Computable 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.

Description

This profile describes the molecular genetic report (molekulargenetischer Befundbericht) of the Medical Informatics Initiative.

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

For the use case that the EBM billing codes are stated in a report,
the Supporting Information Extension is used in DiagnosticReport.extension with a Reference to a ChargeItem resource.
A suitable profile for ChargeItem from the German FHIR base profiles can be used.

Profile

Extensions

Genomics Artifact

  • Name: Genomics Artifact
  • Definition: Captures citations, evidence and other supporting documentation for the observation or the report.
  • url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact

Genomics File

  • Name: Genomics File
  • Definition: Used to convey the content of, or links to, files created as part of the testing process. Examples are VCF, BAM, CRAM and other similar files.
  • url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file

Recommended Action

  • Name: Recommended Action
  • Definition: The extension points to a proposed action that is recommended on the basis of the findings of the report.
  • url: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme

Genomics Risk Assessment

  • Name: Genomics Risk Assessment
  • Definition: RiskAssessment as part of a genomic report or observation.
  • url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment

Coded Note

  • Name: Coded Note
  • Definition: Comments on the report that also carry a coded type.
  • url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note

Supporting Info

  • Name: Supporting Info
  • Definition: Further information that could be relevant for this observation.
  • url: http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo
FHIR element Logical data set
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

Report 1 BRAF

Report 2 NIPBL

The EBM codes to be billed in Report 2 are recorded separately in ChargeItem resources.

Report 3 Risk-Panel

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
.. 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()

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()

Key Elements View

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 View

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 ViewView

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()

 

Other representations of profile: CSV, Excel, Schematron