{
"description": "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.",
"_filename": "fsh-generated/resources/StructureDefinition-mii-pr-molgen-molekulargenetischer-befundbericht.json",
"package_name": "de.medizininformatikinitiative.kerndatensatz.molgen",
"date": null,
"derivation": "constraint",
"publisher": "Medizininformatik Initiative",
"fhirVersion": "4.0.1",
"name": "MII_PR_MolGen_MolekulargenetischerBefundbericht",
"mapping": [ {
"name": "MII KDS Mapping",
"identity": "MII-KDS"
} ],
"abstract": false,
"type": "DiagnosticReport",
"experimental": null,
"resourceType": "StructureDefinition",
"title": "MII PR MolGen Molekulargenetischer Befundbericht",
"package_version": "2026.0.1",
"status": "active",
"id": "bcfdd388-66ba-4bc8-898a-930608603487",
"kind": "resource",
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht",
"version": "2026.0.1",
"differential": {
"element": [ {
"id": "DiagnosticReport",
"path": "DiagnosticReport",
"mapping": [ {
"map": "mide-dataelement-1371",
"comment": "Molekulargenetischer Befundbericht",
"identity": "MII-KDS"
} ]
}, {
"path": "DiagnosticReport.extension",
"definition": "Referenz zu empfohlenen Folgemaßnahmen oder Medikationsempfehlungen",
"short": "Empfohlene Maßnahme",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz zu empfohlenen Folgemaßnahmen oder Medikationsempfehlungen"
} ]
} ]
},
"type": [ {
"code": "Extension",
"profile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-massnahme" ]
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Empfohlene Maßnahme"
} ]
} ]
},
"sliceName": "recommended-action",
"id": "DiagnosticReport.extension:recommended-action"
}, {
"id": "DiagnosticReport.extension:genomic-risk-assessment",
"path": "DiagnosticReport.extension",
"short": "Genomische Risikobewertung",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Genomische Risikobewertung"
} ]
} ]
},
"sliceName": "genomic-risk-assessment",
"definition": "Referenz zu einer genomischen Risikobewertung",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz zu einer genomischen Risikobewertung"
} ]
} ]
},
"mustSupport": true
}, {
"id": "DiagnosticReport.extension:coded-note",
"path": "DiagnosticReport.extension",
"short": "Kodierte Anmerkung",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Kodierte Anmerkung"
} ]
} ]
},
"sliceName": "coded-note",
"definition": "Kodierte Anmerkungen zum genetischen Bericht",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Kodierte Anmerkungen zum genetischen Bericht"
} ]
} ]
},
"mustSupport": true
}, {
"id": "DiagnosticReport.extension:supporting-info",
"path": "DiagnosticReport.extension",
"short": "Unterstützende Informationen",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Unterstützende Informationen"
} ]
} ]
},
"sliceName": "supporting-info",
"definition": "Zusätzliche unterstützende Informationen wie Familienanamnese oder Abrechnungsdaten",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Zusätzliche unterstützende Informationen wie Familienanamnese oder Abrechnungsdaten"
} ]
} ]
},
"mustSupport": true
}, {
"id": "DiagnosticReport.extension:genomic-study",
"path": "DiagnosticReport.extension",
"short": "Genomische Studie",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Genomische Studie"
} ]
} ]
},
"sliceName": "genomic-study",
"definition": "Referenz zur zugehörigen genomischen Studie",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz zur zugehörigen genomischen Studie"
} ]
} ]
},
"mustSupport": true
}, {
"id": "DiagnosticReport.extension:workflow-relatedArtifact",
"path": "DiagnosticReport.extension",
"short": "Verknüpfte Artefakte",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Verknüpfte Artefakte"
} ]
} ]
},
"sliceName": "workflow-relatedArtifact",
"definition": "Verknüpfte Literatur oder andere Artefakte wie Zitationen",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Verknüpfte Literatur oder andere Artefakte wie Zitationen"
} ]
} ]
},
"mustSupport": true
}, {
"path": "DiagnosticReport.status",
"definition": "Status des Befundberichts",
"short": "Status",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Status des Befundberichts"
} ]
} ]
},
"mapping": [ {
"map": "mide-dataelement-1448",
"comment": "Berichtstatus",
"identity": "MII-KDS"
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Status"
} ]
} ]
},
"alias": [ "Berichtstatus" ],
"id": "DiagnosticReport.status"
}, {
"path": "DiagnosticReport.subject",
"min": 1,
"definition": "Der Patient auf den sich der Befundbericht bezieht",
"short": "Patient",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Der Patient auf den sich der Befundbericht bezieht"
} ]
} ]
},
"type": [ {
"code": "Reference",
"targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient", "http://hl7.org/fhir/StructureDefinition/Group" ]
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Patient"
} ]
} ]
},
"id": "DiagnosticReport.subject"
}, {
"id": "DiagnosticReport.encounter",
"path": "DiagnosticReport.encounter",
"short": "Kontakt",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Kontakt"
} ]
} ]
},
"definition": "Der Kontakt in dessen Rahmen der Bericht erstellt wurde",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Der Kontakt in dessen Rahmen der Bericht erstellt wurde"
} ]
} ]
},
"mustSupport": true
}, {
"path": "DiagnosticReport.issued",
"definition": "Datum und Uhrzeit der Freigabe des Berichts",
"short": "Freigabedatum",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Datum und Uhrzeit der Freigabe des Berichts"
} ]
} ]
},
"mapping": [ {
"map": "mide-dataelement-1452",
"comment": "Datum des Berichtes",
"identity": "MII-KDS"
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Freigabedatum"
} ]
} ]
},
"alias": [ "Datum des Berichtes", "Date Issued", "Date Verified" ],
"id": "DiagnosticReport.issued"
}, {
"path": "DiagnosticReport.performer",
"definition": "Das Labor oder die Institution die den Bericht erstellt hat",
"short": "Durchführende Stelle",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Das Labor oder die Institution die den Bericht erstellt hat"
} ]
} ]
},
"mapping": [ {
"map": "mide-dataelement-1453",
"comment": "Labor / Institution/ Ansprechpartner",
"identity": "MII-KDS"
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Durchführende Stelle"
} ]
} ]
},
"alias": [ "Labor / Institution/ Ansprechpartner", "Service", "Practitioner", "Department", "Company", "Authorized by", "Director" ],
"id": "DiagnosticReport.performer"
}, {
"path": "DiagnosticReport.resultsInterpreter",
"definition": "Die Person oder Organisation die die Ergebnisse interpretiert hat",
"short": "Befundinterpreter",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Person oder Organisation die die Ergebnisse interpretiert hat"
} ]
} ]
},
"mapping": [ {
"map": "mide-dataelement-1453",
"comment": "Labor / Institution/ Ansprechpartner",
"identity": "MII-KDS"
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Befundinterpreter"
} ]
} ]
},
"alias": [ "Labor / Institution/ Ansprechpartner", "Reported by" ],
"id": "DiagnosticReport.resultsInterpreter"
}, {
"id": "DiagnosticReport.specimen",
"path": "DiagnosticReport.specimen",
"short": "Probe",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Probe"
} ]
} ]
},
"definition": "Die untersuchte Probe",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die untersuchte Probe"
} ]
} ]
},
"mustSupport": true
}, {
"id": "DiagnosticReport.result",
"path": "DiagnosticReport.result",
"short": "Ergebnis",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Ergebnis"
} ]
} ]
},
"definition": "Referenzen zu den einzelnen Beobachtungsergebnissen",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenzen zu den einzelnen Beobachtungsergebnissen"
} ]
} ]
},
"mustSupport": true
}, {
"path": "DiagnosticReport.result",
"definition": "Referenz zu diagnostischen Implikationen der genetischen Befunde",
"short": "Diagnostische Implikation",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz zu diagnostischen Implikationen der genetischen Befunde"
} ]
} ]
},
"type": [ {
"code": "Reference",
"targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation" ]
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Diagnostische Implikation"
} ]
} ]
},
"sliceName": "diagnostic-implication",
"id": "DiagnosticReport.result:diagnostic-implication"
}, {
"path": "DiagnosticReport.result",
"definition": "Referenz zu therapeutischen Implikationen der genetischen Befunde",
"short": "Therapeutische Implikation",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz zu therapeutischen Implikationen der genetischen Befunde"
} ]
} ]
},
"type": [ {
"code": "Reference",
"targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/therapeutische-implikation" ]
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Therapeutische Implikation"
} ]
} ]
},
"sliceName": "therapeutic-implication",
"id": "DiagnosticReport.result:therapeutic-implication"
}, {
"path": "DiagnosticReport.result",
"definition": "Referenz zu gefundenen genetischen Varianten",
"short": "Variante",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz zu gefundenen genetischen Varianten"
} ]
} ]
},
"type": [ {
"code": "Reference",
"targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante" ]
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Variante"
} ]
} ]
},
"sliceName": "variant",
"id": "DiagnosticReport.result:variant"
}, {
"id": "DiagnosticReport.result:sequence-phase-relation",
"path": "DiagnosticReport.result",
"short": "Sequenz-Phasen-Beziehung",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Sequenz-Phasen-Beziehung"
} ]
} ]
},
"sliceName": "sequence-phase-relation",
"definition": "Referenz zu Sequenz-Phasen-Beziehungen",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz zu Sequenz-Phasen-Beziehungen"
} ]
} ]
},
"mustSupport": true
}, {
"path": "DiagnosticReport.result",
"definition": "Referenz zu Genotyp-Ergebnissen",
"short": "Genotyp",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz zu Genotyp-Ergebnissen"
} ]
} ]
},
"type": [ {
"code": "Reference",
"targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genotyp" ]
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Genotyp"
} ]
} ]
},
"sliceName": "genotype",
"id": "DiagnosticReport.result:genotype"
}, {
"id": "DiagnosticReport.result:haplotype",
"path": "DiagnosticReport.result",
"short": "Haplotyp",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Haplotyp"
} ]
} ]
},
"sliceName": "haplotype",
"definition": "Referenz zu Haplotyp-Ergebnissen",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz zu Haplotyp-Ergebnissen"
} ]
} ]
},
"mustSupport": true
}, {
"id": "DiagnosticReport.result:biomarker",
"path": "DiagnosticReport.result",
"short": "Biomarker",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Biomarker"
} ]
} ]
},
"sliceName": "biomarker",
"definition": "Referenz zu molekularen Biomarkern wie TMB oder MSI",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz zu molekularen Biomarkern wie TMB oder MSI"
} ]
} ]
},
"mustSupport": true
}, {
"id": "DiagnosticReport.media",
"path": "DiagnosticReport.media",
"short": "Medien",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Medien"
} ]
} ]
},
"mapping": [ {
"map": "mide-dataelement-1698",
"comment": "Daten",
"identity": "MII-KDS"
}, {
"map": "mide-dataelement-1447",
"comment": "Anhänge",
"identity": "MII-KDS"
} ],
"definition": "Bilder oder andere Medien die zum Bericht gehören",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Bilder oder andere Medien die zum Bericht gehören"
} ]
} ]
},
"mustSupport": true
}, {
"id": "DiagnosticReport.conclusion",
"path": "DiagnosticReport.conclusion",
"short": "Schlussfolgerung",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Schlussfolgerung"
} ]
} ]
},
"definition": "Textuelle Zusammenfassung der Befundergebnisse",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Textuelle Zusammenfassung der Befundergebnisse"
} ]
} ]
},
"mustSupport": true
}, {
"id": "DiagnosticReport.conclusionCode",
"path": "DiagnosticReport.conclusionCode",
"short": "Schlussfolgerungscode",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Schlussfolgerungscode"
} ]
} ]
},
"definition": "Kodierte Schlussfolgerung des Befundes",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Kodierte Schlussfolgerung des Befundes"
} ]
} ]
},
"mustSupport": true
} ]
},
"contact": [ {
"telecom": [ {
"value": "https://www.medizininformatik-initiative.de",
"system": "url"
} ]
} ],
"baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"
}