{
"description": "Dieses Profil ermöglicht eine vollständige Beschreibung der gefundenen Variante unter Verwendung von Eigenschaften aus einer Vielzahl von Testmethoden.",
"_filename": "fsh-generated/resources/StructureDefinition-mii-pr-molgen-variante.json",
"package_name": "de.medizininformatikinitiative.kerndatensatz.molgen",
"date": null,
"derivation": "constraint",
"publisher": "Medizininformatik Initiative",
"fhirVersion": "4.0.1",
"name": "MII_PR_MolGen_Variante",
"mapping": [ {
"name": "MII KDS Mapping",
"identity": "MII-KDS"
} ],
"abstract": false,
"type": "Observation",
"experimental": null,
"resourceType": "StructureDefinition",
"title": "MII PR MolGen Variante",
"package_version": "2026.0.1",
"status": "active",
"id": "bf6701df-5d95-41e1-9de5-72e554bc4ba7",
"kind": "resource",
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante",
"version": "2026.0.1",
"differential": {
"element": [ {
"id": "Observation.status",
"path": "Observation.status",
"short": "Status",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Status"
} ]
} ]
},
"definition": "Status der Beobachtung",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Status der Beobachtung"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.category",
"path": "Observation.category",
"short": "Kategorie",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Kategorie"
} ]
} ]
},
"definition": "Klassifizierung der Beobachtungsart",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Klassifizierung der Beobachtungsart"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.code",
"path": "Observation.code",
"short": "Code",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Code"
} ]
} ]
},
"definition": "Code zur Identifizierung der Varianten-Beobachtung",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Code zur Identifizierung der Varianten-Beobachtung"
} ]
} ]
},
"mustSupport": true
}, {
"path": "Observation.subject",
"min": 1,
"definition": "Der Patient oder die Gruppe auf die sich die Variante bezieht",
"short": "Patient oder Proband",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Der Patient oder die Gruppe auf die sich die Variante 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 oder Proband"
} ]
} ]
},
"id": "Observation.subject"
}, {
"id": "Observation.effective[x]",
"path": "Observation.effective[x]",
"short": "Zeitpunkt der Beobachtung",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Zeitpunkt der Beobachtung"
} ]
} ]
},
"definition": "Klinisch relevanter Zeitpunkt oder Zeitraum der Beobachtung",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Klinisch relevanter Zeitpunkt oder Zeitraum der Beobachtung"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.issued",
"path": "Observation.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 der Beobachtung",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Datum und Uhrzeit der Freigabe der Beobachtung"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.value[x]",
"path": "Observation.value[x]",
"short": "Ergebniswert",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Ergebniswert"
} ]
} ]
},
"definition": "Das Ergebnis der Variantenanalyse - vorhanden oder abwesend",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Das Ergebnis der Variantenanalyse - vorhanden oder abwesend"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.method",
"path": "Observation.method",
"short": "Methode",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Methode"
} ]
} ]
},
"definition": "Die verwendete Untersuchungsmethode",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die verwendete Untersuchungsmethode"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.specimen",
"path": "Observation.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": "Observation.device",
"path": "Observation.device",
"short": "Gerät",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Gerät"
} ]
} ]
},
"definition": "Das verwendete Analysegerät",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Das verwendete Analysegerät"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:conclusion-string",
"path": "Observation.component",
"short": "Schlussfolgerung - Text",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Schlussfolgerung - Text"
} ]
} ]
},
"sliceName": "conclusion-string",
"definition": "Textuelle Zusammenfassung oder Schlussfolgerung zur Variante",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Textuelle Zusammenfassung oder Schlussfolgerung zur Variante"
} ]
} ]
},
"mustSupport": true
}, {
"path": "Observation.component",
"definition": "Das untersuchte Gen identifiziert durch HGNC-ID",
"short": "Untersuchtes Gen",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Das untersuchte Gen identifiziert durch HGNC-ID"
} ]
} ]
},
"mapping": [ {
"map": "mide-dataelement-1400",
"comment": "Getestete Gene ID",
"identity": "MII-KDS"
} ],
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Untersuchtes Gen"
} ]
} ]
},
"sliceName": "gene-studied",
"id": "Observation.component:gene-studied"
}, {
"id": "Observation.component:cytogenetic-location",
"path": "Observation.component",
"short": "Zytogenetische Lokalisation",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Zytogenetische Lokalisation"
} ]
} ]
},
"sliceName": "cytogenetic-location",
"definition": "Chromosomale Position der Variante in Bandennomenklatur",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Chromosomale Position der Variante in Bandennomenklatur"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:reference-sequence-assembly",
"path": "Observation.component",
"short": "Referenzgenom-Assembly",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenzgenom-Assembly"
} ]
} ]
},
"sliceName": "reference-sequence-assembly",
"definition": "Die verwendete Referenzgenom-Version wie z.B. GRCh37 oder GRCh38",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die verwendete Referenzgenom-Version wie z.B. GRCh37 oder GRCh38"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:chromosome-identifier",
"path": "Observation.component",
"short": "Chromosom",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Chromosom"
} ]
} ]
},
"sliceName": "chromosome-identifier",
"definition": "Das betroffene Chromosom",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Das betroffene Chromosom"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:representative-coding-hgvs",
"path": "Observation.component",
"short": "DNA-Änderung c.HGVS",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "DNA-Änderung c.HGVS"
} ]
} ]
},
"sliceName": "representative-coding-hgvs",
"definition": "Die cDNA-Änderung in HGVS-Nomenklatur auf Transkriptebene",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die cDNA-Änderung in HGVS-Nomenklatur auf Transkriptebene"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:genomic-hgvs",
"path": "Observation.component",
"short": "Genomische DNA-Änderung g.HGVS",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Genomische DNA-Änderung g.HGVS"
} ]
} ]
},
"sliceName": "genomic-hgvs",
"definition": "Die genomische DNA-Änderung in HGVS-Nomenklatur",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die genomische DNA-Änderung in HGVS-Nomenklatur"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:genomic-ref-seq",
"path": "Observation.component",
"short": "Genomische Referenzsequenz",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Genomische Referenzsequenz"
} ]
} ]
},
"sliceName": "genomic-ref-seq",
"definition": "Die genomische Referenzsequenz-ID wie z.B. NC_000007.14",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die genomische Referenzsequenz-ID wie z.B. NC_000007.14"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:representative-transcript-ref-seq",
"path": "Observation.component",
"short": "Transkript-Referenzsequenz",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Transkript-Referenzsequenz"
} ]
} ]
},
"sliceName": "representative-transcript-ref-seq",
"definition": "Die Transkript-Referenzsequenz-ID wie z.B. NM_004333.4",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Transkript-Referenzsequenz-ID wie z.B. NM_004333.4"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:exact-start-end",
"path": "Observation.component",
"short": "Exakte Start-End-Position",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Exakte Start-End-Position"
} ]
} ]
},
"sliceName": "exact-start-end",
"definition": "Die exakten genomischen Koordinaten der Variante - Start und Ende",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die exakten genomischen Koordinaten der Variante - Start und Ende"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:inner-start-end",
"path": "Observation.component",
"short": "Innere Start-End-Position",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Innere Start-End-Position"
} ]
} ]
},
"sliceName": "inner-start-end",
"definition": "Der innere Bereich bei strukturellen Varianten",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Der innere Bereich bei strukturellen Varianten"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:outer-start-end",
"path": "Observation.component",
"short": "Äußere Start-End-Position",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Äußere Start-End-Position"
} ]
} ]
},
"sliceName": "outer-start-end",
"definition": "Der äußere Bereich bei strukturellen Varianten",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Der äußere Bereich bei strukturellen Varianten"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:ref-allele",
"path": "Observation.component",
"short": "Referenz-Allel",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Referenz-Allel"
} ]
} ]
},
"sliceName": "ref-allele",
"definition": "Die Nukleotidsequenz des Referenz-Allels",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Nukleotidsequenz des Referenz-Allels"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:alt-allele",
"path": "Observation.component",
"short": "Alternatives Allel",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Alternatives Allel"
} ]
} ]
},
"sliceName": "alt-allele",
"definition": "Die Nukleotidsequenz des alternativen - mutierten - Allels",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Nukleotidsequenz des alternativen - mutierten - Allels"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:coding-change-type",
"path": "Observation.component",
"short": "DNA-Änderungstyp",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "DNA-Änderungstyp"
} ]
} ]
},
"sliceName": "coding-change-type",
"definition": "Der Typ der DNA-Änderung wie z.B. Substitution oder Deletion",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Der Typ der DNA-Änderung wie z.B. Substitution oder Deletion"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:genomic-source-class",
"path": "Observation.component",
"short": "Genomische Herkunftsklasse",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Genomische Herkunftsklasse"
} ]
} ]
},
"sliceName": "genomic-source-class",
"definition": "Die Herkunft der Variante wie z.B. somatisch oder Keimbahn",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Herkunft der Variante wie z.B. somatisch oder Keimbahn"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:sample-allelic-frequency",
"path": "Observation.component",
"short": "Allelfrequenz in der Probe",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Allelfrequenz in der Probe"
} ]
} ]
},
"sliceName": "sample-allelic-frequency",
"definition": "Die Häufigkeit des varianten Allels in der untersuchten Probe",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Häufigkeit des varianten Allels in der untersuchten Probe"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:allelic-read-depth",
"path": "Observation.component",
"short": "Allelische Lesetiefe",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Allelische Lesetiefe"
} ]
} ]
},
"sliceName": "allelic-read-depth",
"definition": "Die Anzahl der Reads die das Allel unterstützen",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Anzahl der Reads die das Allel unterstützen"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:allelic-state",
"path": "Observation.component",
"short": "Allelstatus",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Allelstatus"
} ]
} ]
},
"sliceName": "allelic-state",
"definition": "Der Allelstatus wie z.B. heterozygot oder homozygot",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Der Allelstatus wie z.B. heterozygot oder homozygot"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:variant-inheritance",
"path": "Observation.component",
"short": "Varianten-Vererbung",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Varianten-Vererbung"
} ]
} ]
},
"sliceName": "variant-inheritance",
"definition": "Die Vererbungsart der Variante wie z.B. maternal oder paternal",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Vererbungsart der Variante wie z.B. maternal oder paternal"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:variation-code",
"path": "Observation.component",
"short": "Varianten-Code",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Varianten-Code"
} ]
} ]
},
"sliceName": "variation-code",
"definition": "Eindeutiger Identifikator der Variante aus externen Datenbanken wie z.B. ClinVar oder dbSNP",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Eindeutiger Identifikator der Variante aus externen Datenbanken wie z.B. ClinVar oder dbSNP"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:representative-protein-hgvs",
"path": "Observation.component",
"short": "Aminosäure-Änderung p.HGVS",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Aminosäure-Änderung p.HGVS"
} ]
} ]
},
"sliceName": "representative-protein-hgvs",
"definition": "Die Aminosäure-Änderung in HGVS-Nomenklatur auf Proteinebene",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Aminosäure-Änderung in HGVS-Nomenklatur auf Proteinebene"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:copy-number",
"path": "Observation.component",
"short": "Kopienzahl",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Kopienzahl"
} ]
} ]
},
"sliceName": "copy-number",
"definition": "Die Anzahl der Kopien eines genomischen Abschnitts",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Anzahl der Kopien eines genomischen Abschnitts"
} ]
} ]
},
"mustSupport": true
}, {
"id": "Observation.component:variant-confidence-status",
"path": "Observation.component",
"short": "Konfidenzstatus der Variante",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Konfidenzstatus der Variante"
} ]
} ]
},
"sliceName": "variant-confidence-status",
"definition": "Der Vertrauensstatus der Variantendetektion",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Der Vertrauensstatus der Variantendetektion"
} ]
} ]
},
"mustSupport": true
}, {
"path": "Observation.component",
"min": 0,
"definition": "Ein lesbarer Name für die untersuchte Region. Typischerweise Exon # oder Intron # oder andere.",
"short": "DNA-Regionsname",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Ein lesbarer Name für die untersuchte Region. Typischerweise Exon # oder Intron # oder andere."
} ]
} ]
},
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "DNA-Regionsname"
} ]
} ]
},
"sliceName": "dna-region",
"max": "*",
"id": "Observation.component:dna-region"
}, {
"id": "Observation.component:dna-region.code",
"path": "Observation.component.code",
"short": "47999-8",
"patternCodeableConcept": {
"coding": [ {
"code": "47999-8",
"system": "http://loinc.org"
} ]
}
}, {
"id": "Observation.component:dna-region.value[x]",
"min": 1,
"path": "Observation.component.value[x]",
"type": [ {
"code": "string"
} ]
}, {
"path": "Observation.component",
"min": 0,
"definition": "Details zur Genfusion in Blut oder Gewebe mittels molekulargenetischer Methode",
"short": "Genfusion",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Details zur Genfusion in Blut oder Gewebe mittels molekulargenetischer Methode"
} ]
} ]
},
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Genfusion"
} ]
} ]
},
"sliceName": "gene-fusion",
"max": "1",
"id": "Observation.component:gene-fusion"
}, {
"id": "Observation.component:gene-fusion.code",
"path": "Observation.component.code",
"patternCodeableConcept": {
"coding": [ {
"code": "95123-6",
"system": "http://loinc.org"
} ]
}
}, {
"id": "Observation.component:gene-fusion.value[x]",
"min": 1,
"path": "Observation.component.value[x]",
"type": [ {
"code": "CodeableConcept"
} ],
"short": "HGNC-Format für Genfusionen GENESYMBOL1::GENESYMBOL2 und Readthrough-Transkripte GENESYMBOL1-GENESYMBOL2",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "HGNC-Format für Genfusionen GENESYMBOL1::GENESYMBOL2 und Readthrough-Transkripte GENESYMBOL1-GENESYMBOL2"
} ]
} ]
},
"binding": {
"strength": "extensible",
"valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
}
}, {
"path": "Observation.component",
"min": 0,
"definition": "Die Nachweisgrenze des Laborgeräts",
"short": "Nachweisgrenze",
"_definition": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Die Nachweisgrenze des Laborgeräts"
} ]
} ]
},
"mustSupport": true,
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Nachweisgrenze"
} ]
} ]
},
"sliceName": "detection-limit",
"max": "1",
"id": "Observation.component:detection-limit"
}, {
"id": "Observation.component:detection-limit.code",
"path": "Observation.component.code",
"patternCodeableConcept": {
"coding": [ {
"code": "87706-8",
"system": "http://loinc.org"
} ]
}
}, {
"id": "Observation.component:detection-limit.value[x]",
"path": "Observation.component.value[x]",
"type": [ {
"code": "Quantity"
} ],
"short": "Wird üblicherweise als Prozentsatz angegeben",
"_short": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/translation",
"extension": [ {
"url": "lang",
"valueCode": "de-DE"
}, {
"url": "content",
"valueString": "Wird üblicherweise als Prozentsatz angegeben"
} ]
} ]
}
} ]
},
"contact": [ {
"telecom": [ {
"value": "https://www.medizininformatik-initiative.de",
"system": "url"
} ]
} ],
"baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
}