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

: Beispiel DNA-Fusion - 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-DNA-Fusion-1"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-dna-fusion|2026.0.0"^^xsd:anyURI ;
fhir:l <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-dna-fusion?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-DNA-Fusion-1</b></p><a name=\"MII-EXA-MTB-DNA-Fusion-1\"> </a><a name=\"hcMII-EXA-MTB-DNA-Fusion-1\"> </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-dna-fusion.html\">MII PR MTB DNA Fusionversion: 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=\"https://simplifier.net/resolve?scope=de.basisprofil.r4@1.5.4&amp;canonical=http://fhir.org/packages/de.basisprofil.r4/Patient/example\">Patient/example</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-chromosome}\">Five Prime Chromosome</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA21255-7}\">Chromosome 2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-chromosome}\">Three Prime Chromosome</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA21258-1}\">Chromosome 5</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-position}\">Five Prime Position</span></p><p><b>value</b>: 12345678-12345680</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-position}\">Three Prime Position</span></p><p><b>value</b>: 87654321-87654323</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-gene}\">Five Prime Gene</span></p><p><b>value</b>: <span title=\"Codes:\">BRCA1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-gene}\">Three Prime Gene</span></p><p><b>value</b>: <span title=\"Codes:\">RET</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 150 Number of reported reads<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/example ;
fhir:reference [ fhir:v "Patient/example" ]
  ] ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ;
fhir:l <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker>         ] ;
fhir:code [ fhir:v "five-prime-chromosome" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA21255-7 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "LA21255-7" ] ;
fhir:display [ fhir:v "Chromosome 2" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ;
fhir:l <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker>         ] ;
fhir:code [ fhir:v "three-prime-chromosome" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA21258-1 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "LA21258-1" ] ;
fhir:display [ fhir:v "Chromosome 5" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ;
fhir:l <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker>         ] ;
fhir:code [ fhir:v "five-prime-position" ]       ] )     ] ;
fhir:value [
a fhir:Range ;
fhir:low [
fhir:value [ fhir:v "12345678"^^xsd:decimal ]       ] ;
fhir:high [
fhir:value [ fhir:v "12345680"^^xsd:decimal ]       ]     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ;
fhir:l <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker>         ] ;
fhir:code [ fhir:v "three-prime-position" ]       ] )     ] ;
fhir:value [
a fhir:Range ;
fhir:low [
fhir:value [ fhir:v "87654321"^^xsd:decimal ]       ] ;
fhir:high [
fhir:value [ fhir:v "87654323"^^xsd:decimal ]       ]     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ;
fhir:l <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker>         ] ;
fhir:code [ fhir:v "five-prime-gene" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:code [ fhir:v "HGNC:1100" ] ;
fhir:display [ fhir:v "BRCA1" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [
fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ;
fhir:l <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker>         ] ;
fhir:code [ fhir:v "three-prime-gene" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:code [ fhir:v "HGNC:9967" ] ;
fhir:display [ fhir:v "RET" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:82121-5 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "82121-5" ]       ] )     ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "150"^^xsd:decimal ] ;
fhir:unit [ fhir:v "Number of reported reads" ] ;
fhir:system [
fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ;
fhir:l <http://unitsofmeasure.org>       ] ;
fhir:code [ fhir:v "1" ]     ]
  ] ) . #