MII IG Kerndatensatz-Modul Molekulares Tumorboard
2026.0.0 - release Unknown region code '276'

MII IG Kerndatensatz-Modul Molekulares Tumorboard, published by Medizininformatik-Initiative. This guide is not an authorized publication; it is the continuous build for version 2026.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/medizininformatik-initiative/kerndatensatzmodul-molekulares-tumorboard/ and changes regularly. See the Directory of published versions

: CCNE1 Einfache Variante 2 - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "mii-exa-mtb-kim-musterperson-CNVariante-CCNE1"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant|2026.0.0"^^xsd:anyURI ;
fhir:l <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant?version=2026.0.0>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-mtb-kim-musterperson-CNVariante-CCNE1</b></p><a name=\"mii-exa-mtb-kim-musterperson-CNVariante-CCNE1\"> </a><a name=\"hcmii-exa-mtb-kim-musterperson-CNVariante-CCNE1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-mii-pr-mtb-copy-number-variant.html\">MII PR MTB Copy Number Variantversion: null2026.0.0)</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetik</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-PatientKimMusterperson.html\">Kim Musterperson  (no stated gender), DoB: 1956-03-14</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:1589}\">CCNE1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://bwhc.de/mtb/genetics-copy-number-variant type}\">type</span></p><p><b>value</b>: <span title=\"Codes:{http://bwhc.de/mtb/genetics-copy-number-variant high-level-gain}\">high-level-gain</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></p><p><b>value</b>: 7 1<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1 = '1')</span></p></blockquote></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:category ( [
    ( fhir:coding [
fhir:system [
fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ;
fhir:l <http://terminology.hl7.org/CodeSystem/observation-category>       ] ;
fhir:code [ fhir:v "laboratory" ] ;
fhir:display [ fhir:v "Laboratory" ]     ] )
  ] [
    ( fhir:coding [
fhir:system [
fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ;
fhir:l <http://terminology.hl7.org/CodeSystem/v2-0074>       ] ;
fhir:code [ fhir:v "GE" ]     ] )
  ] ) ; # 
  fhir:code [
    ( fhir:coding [
a loinc:69548-6 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>       ] ;
fhir:code [ fhir:v "69548-6" ] ;
fhir:display [ fhir:v "Genetic variant assessment" ]     ] )
  ] ; # 
  fhir:subject [
fhir:l fhir:Patient/PatientKimMusterperson ;
fhir:reference [ fhir:v "Patient/PatientKimMusterperson" ]
  ] ; # 
  fhir:value [
a fhir:CodeableConcept ;
    ( fhir:coding [
a loinc:LA9633-4 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>       ] ;
fhir:code [ fhir:v "LA9633-4" ] ;
fhir:display [ fhir:v "Present" ]     ] )
  ] ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
a loinc:48018-6 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [
fhir:v "http://www.genenames.org/geneId"^^xsd:anyURI ;
fhir:l <http://www.genenames.org/geneId>         ] ;
fhir:code [ fhir:v "HGNC:1589" ] ;
fhir:display [ fhir:v "CCNE1" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "http://bwhc.de/mtb/genetics-copy-number-variant"^^xsd:anyURI ;
fhir:l <http://bwhc.de/mtb/genetics-copy-number-variant>         ] ;
fhir:code [ fhir:v "type" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [
fhir:v "http://bwhc.de/mtb/genetics-copy-number-variant"^^xsd:anyURI ;
fhir:l <http://bwhc.de/mtb/genetics-copy-number-variant>         ] ;
fhir:code [ fhir:v "high-level-gain" ] ;
fhir:display [ fhir:v "high-level-gain" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:82155-3 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "82155-3" ] ;
fhir:display [ fhir:v "Genomic structural variant copy number" ]       ] )     ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "7"^^xsd:decimal ] ;
fhir:system [
fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ;
fhir:l <http://unitsofmeasure.org>       ] ;
fhir:code [ fhir:v "1" ]     ]
  ] ) . #