{ "resourceType": "StructureDefinition", "id": "mii-pr-molgen-variante", "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante", "version": "2026.0.4", "name": "MII_PR_MolGen_Variante", "title": "MII PR MolGen Variante", "status": "active", "publisher": "Medizininformatik Initiative", "contact": [ { "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de" } ] } ], "description": "Dieses Profil ermöglicht eine vollständige Beschreibung der gefundenen Variante unter Verwendung von Eigenschaften aus einer Vielzahl von Testmethoden.", "fhirVersion": "4.0.1", "mapping": [ { "identity": "MII-KDS", "name": "MII KDS Mapping" } ], "kind": "resource", "abstract": false, "type": "Observation", "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant", "derivation": "constraint", "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 }, { "id": "Observation.subject", "path": "Observation.subject", "short": "Patient oder Proband", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Patient oder Proband" } ] } ] }, "definition": "Der Patient oder die Gruppe auf die sich die Variante bezieht", "_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" } ] } ] }, "min": 1, "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient", "http://hl7.org/fhir/StructureDefinition/Group" ] } ], "mustSupport": true }, { "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", "sliceName": "conclusion-string", "short": "Schlussfolgerung - Text", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Schlussfolgerung - Text" } ] } ] }, "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 }, { "id": "Observation.component:gene-studied", "path": "Observation.component", "sliceName": "gene-studied", "short": "Untersuchtes Gen", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Untersuchtes Gen" } ] } ] }, "definition": "Das untersuchte Gen identifiziert durch HGNC-ID", "_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" } ] } ] }, "mustSupport": true, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1400", "comment": "Getestete Gene ID" } ] }, { "id": "Observation.component:cytogenetic-location", "path": "Observation.component", "sliceName": "cytogenetic-location", "short": "Zytogenetische Lokalisation", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Zytogenetische Lokalisation" } ] } ] }, "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", "sliceName": "reference-sequence-assembly", "short": "Referenzgenom-Assembly", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Referenzgenom-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", "sliceName": "chromosome-identifier", "short": "Chromosom", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Chromosom" } ] } ] }, "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", "sliceName": "representative-coding-hgvs", "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" } ] } ] }, "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", "sliceName": "genomic-hgvs", "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" } ] } ] }, "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", "sliceName": "genomic-ref-seq", "short": "Genomische Referenzsequenz", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Genomische Referenzsequenz" } ] } ] }, "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", "sliceName": "representative-transcript-ref-seq", "short": "Transkript-Referenzsequenz", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Transkript-Referenzsequenz" } ] } ] }, "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", "sliceName": "exact-start-end", "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" } ] } ] }, "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", "sliceName": "inner-start-end", "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" } ] } ] }, "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", "sliceName": "outer-start-end", "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" } ] } ] }, "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", "sliceName": "ref-allele", "short": "Referenz-Allel", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Referenz-Allel" } ] } ] }, "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", "sliceName": "alt-allele", "short": "Alternatives Allel", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Alternatives Allel" } ] } ] }, "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", "sliceName": "coding-change-type", "short": "DNA-Änderungstyp", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "DNA-Änderungstyp" } ] } ] }, "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", "sliceName": "genomic-source-class", "short": "Genomische Herkunftsklasse", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Genomische Herkunftsklasse" } ] } ] }, "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", "sliceName": "sample-allelic-frequency", "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" } ] } ] }, "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", "sliceName": "allelic-read-depth", "short": "Allelische Lesetiefe", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Allelische Lesetiefe" } ] } ] }, "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", "sliceName": "allelic-state", "short": "Allelstatus", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Allelstatus" } ] } ] }, "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", "sliceName": "variant-inheritance", "short": "Varianten-Vererbung", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Varianten-Vererbung" } ] } ] }, "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", "sliceName": "variation-code", "short": "Varianten-Code", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Varianten-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", "sliceName": "representative-protein-hgvs", "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" } ] } ] }, "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", "sliceName": "copy-number", "short": "Kopienzahl", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Kopienzahl" } ] } ] }, "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", "sliceName": "variant-confidence-status", "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" } ] } ] }, "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 }, { "id": "Observation.component:dna-region", "path": "Observation.component", "sliceName": "dna-region", "short": "DNA-Regionsname", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "DNA-Regionsname" } ] } ] }, "definition": "Ein lesbarer Name für die untersuchte Region. Typischerweise Exon # oder Intron # oder andere.", "_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." } ] } ] }, "min": 0, "max": "*", "mustSupport": true }, { "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]", "path": "Observation.component.value[x]", "min": 1, "type": [ { "code": "string" } ] }, { "id": "Observation.component:gene-fusion", "path": "Observation.component", "sliceName": "gene-fusion", "short": "Genfusion", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Genfusion" } ] } ] }, "definition": "Details zur Genfusion in Blut oder Gewebe mittels molekulargenetischer Methode", "_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" } ] } ] }, "min": 0, "max": "1", "mustSupport": true }, { "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]", "path": "Observation.component.value[x]", "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" } ] } ] }, "min": 1, "type": [ { "code": "CodeableConcept" } ], "binding": { "strength": "extensible", "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs" } }, { "id": "Observation.component:detection-limit", "path": "Observation.component", "sliceName": "detection-limit", "short": "Nachweisgrenze", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Nachweisgrenze" } ] } ] }, "definition": "Die Nachweisgrenze des Laborgeräts", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Die Nachweisgrenze des Laborgeräts" } ] } ] }, "min": 0, "max": "1", "mustSupport": true }, { "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]", "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" } ] } ] }, "type": [ { "code": "Quantity" } ] } ] } }