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