{ "resourceType": "StructureDefinition", "id": "mii-pr-molgen-molekulargenetischer-befundbericht", "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht", "version": "2026.0.4", "name": "MII_PR_MolGen_MolekulargenetischerBefundbericht", "title": "MII PR MolGen Molekulargenetischer Befundbericht", "status": "active", "publisher": "Medizininformatik Initiative", "contact": [ { "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de" } ] } ], "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.", "fhirVersion": "4.0.1", "mapping": [ { "identity": "MII-KDS", "name": "MII KDS Mapping" } ], "kind": "resource", "abstract": false, "type": "DiagnosticReport", "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report", "derivation": "constraint", "differential": { "element": [ { "id": "DiagnosticReport", "path": "DiagnosticReport", "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1371", "comment": "Molekulargenetischer Befundbericht" } ] }, { "id": "DiagnosticReport.extension:recommended-action", "path": "DiagnosticReport.extension", "sliceName": "recommended-action", "short": "Empfohlene Maßnahme", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Empfohlene Maßnahme" } ] } ] }, "definition": "Referenz zu empfohlenen Folgemaßnahmen oder Medikationsempfehlungen", "_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 }, { "id": "DiagnosticReport.extension:genomic-risk-assessment", "path": "DiagnosticReport.extension", "sliceName": "genomic-risk-assessment", "short": "Genomische Risikobewertung", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Genomische Risikobewertung" } ] } ] }, "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", "sliceName": "coded-note", "short": "Kodierte Anmerkung", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Kodierte Anmerkung" } ] } ] }, "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", "sliceName": "supporting-info", "short": "Unterstützende Informationen", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Unterstützende Informationen" } ] } ] }, "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", "sliceName": "genomic-study", "short": "Genomische Studie", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Genomische Studie" } ] } ] }, "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", "sliceName": "workflow-relatedArtifact", "short": "Verknüpfte Artefakte", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Verknüpfte Artefakte" } ] } ] }, "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 }, { "id": "DiagnosticReport.status", "path": "DiagnosticReport.status", "short": "Status", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Status" } ] } ] }, "definition": "Status des Befundberichts", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Status des Befundberichts" } ] } ] }, "alias": [ "Berichtstatus" ], "mustSupport": true, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1448", "comment": "Berichtstatus" } ] }, { "id": "DiagnosticReport.subject", "path": "DiagnosticReport.subject", "short": "Patient", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Patient" } ] } ] }, "definition": "Der Patient auf den sich der Befundbericht bezieht", "_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" } ] } ] }, "min": 1, "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient", "http://hl7.org/fhir/StructureDefinition/Group" ] } ], "mustSupport": true }, { "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 }, { "id": "DiagnosticReport.issued", "path": "DiagnosticReport.issued", "short": "Freigabedatum", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Freigabedatum" } ] } ] }, "definition": "Datum und Uhrzeit der Freigabe des Berichts", "_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" } ] } ] }, "alias": [ "Datum des Berichtes", "Date Issued", "Date Verified" ], "mustSupport": true, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1452", "comment": "Datum des Berichtes" } ] }, { "id": "DiagnosticReport.performer", "path": "DiagnosticReport.performer", "short": "Durchführende Stelle", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Durchführende Stelle" } ] } ] }, "definition": "Das Labor oder die Institution die den Bericht erstellt hat", "_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" } ] } ] }, "alias": [ "Labor / Institution/ Ansprechpartner", "Service", "Practitioner", "Department", "Company", "Authorized by", "Director" ], "mustSupport": true, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1453", "comment": "Labor / Institution/ Ansprechpartner" } ] }, { "id": "DiagnosticReport.resultsInterpreter", "path": "DiagnosticReport.resultsInterpreter", "short": "Befundinterpreter", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Befundinterpreter" } ] } ] }, "definition": "Die Person oder Organisation die die Ergebnisse interpretiert hat", "_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" } ] } ] }, "alias": [ "Labor / Institution/ Ansprechpartner", "Reported by" ], "mustSupport": true, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1453", "comment": "Labor / Institution/ Ansprechpartner" } ] }, { "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 }, { "id": "DiagnosticReport.result:diagnostic-implication", "path": "DiagnosticReport.result", "sliceName": "diagnostic-implication", "short": "Diagnostische Implikation", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Diagnostische Implikation" } ] } ] }, "definition": "Referenz zu diagnostischen Implikationen der genetischen Befunde", "_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 }, { "id": "DiagnosticReport.result:therapeutic-implication", "path": "DiagnosticReport.result", "sliceName": "therapeutic-implication", "short": "Therapeutische Implikation", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Therapeutische Implikation" } ] } ] }, "definition": "Referenz zu therapeutischen Implikationen der genetischen Befunde", "_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 }, { "id": "DiagnosticReport.result:variant", "path": "DiagnosticReport.result", "sliceName": "variant", "short": "Variante", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Variante" } ] } ] }, "definition": "Referenz zu gefundenen genetischen Varianten", "_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 }, { "id": "DiagnosticReport.result:sequence-phase-relation", "path": "DiagnosticReport.result", "sliceName": "sequence-phase-relation", "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" } ] } ] }, "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 }, { "id": "DiagnosticReport.result:genotype", "path": "DiagnosticReport.result", "sliceName": "genotype", "short": "Genotyp", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Genotyp" } ] } ] }, "definition": "Referenz zu Genotyp-Ergebnissen", "_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 }, { "id": "DiagnosticReport.result:haplotype", "path": "DiagnosticReport.result", "sliceName": "haplotype", "short": "Haplotyp", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Haplotyp" } ] } ] }, "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", "sliceName": "biomarker", "short": "Biomarker", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "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" } ] } ] }, "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, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1698", "comment": "Daten" }, { "identity": "MII-KDS", "map": "mide-dataelement-1447", "comment": "Anhänge" } ] }, { "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 } ] } }