{ "resourceType": "StructureDefinition", "id": "mii-pr-molgen-variante", "meta": { "profile": [ "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablestructuredefinition", "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablestructuredefinition" ], "extension": [ { "url": "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-license", "valueCode": "CC-BY-4.0" }, { "url": "http://hl7.org/fhir/StructureDefinition/package-source", "extension": [ { "url": "packageId", "valueId": "de.medizininformatikinitiative.kerndatensatz.molgen" }, { "url": "version", "valueString": "2027.0.0-ballot.1" }, { "url": "uri", "valueUri": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen" } ] } ] }, "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability", "valueCode": "shareable" }, { "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability", "valueCode": "publishable" }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-usage", "valueMarkdown": "Use this profile as the technical FHIR representation of the corresponding Medical Informatics Initiative logical model. The profile constrains a base FHIR resource for the MII module context by specifying how elements are used, which elements are required or not used, which extensions and terminology bindings apply, and how the resource maps to the module-specific content model. Implementers should produce and consume resource instances that conform to this profile when exchanging data for the corresponding MII module." }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy", "valueCodeableConcept": { "coding": [ { "code": "package", "system": "http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes", "version": "3.0.0", "display": "Package" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/resource-approvalDate", "valueDate": "2026-09-15" }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-topic", "valueCodeableConcept": { "coding": [ { "code": "C17457", "system": "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-author", "valueContactDetail": { "telecom": [ { "system": "email", "value": "thomas.debertshaeuser@charite.de" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-editor", "valueContactDetail": { "name": "Taskforce Core Data Set" } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer", "valueContactDetail": { "name": "Interoperability Working Group", "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer", "valueContactDetail": { "name": "National Steering Committee", "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser", "valueContactDetail": { "name": "Interoperability Working Group", "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser", "valueContactDetail": { "name": "National Steering Committee", "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm", "valueCoding": { "code": "semver", "system": "http://hl7.org/fhir/version-algorithm", "display": "SemVer" } }, { "url": "http://hl7.org/fhir/StructureDefinition/resource-effectivePeriod", "valuePeriod": { "start": "2027" } } ], "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante", "version": "2027.0.0-ballot.1", "name": "MII_PR_MolGen_Variante", "title": "MII PR MolGen Variante", "status": "active", "experimental": false, "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" } ] } ] } }