@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 -------------------------------------------------------------------

<https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/Observation/MII-EXA-MTB-Einfache-Variante> a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "MII-EXA-MTB-Einfache-Variante"] ; # 
  fhir:meta [
     fhir:profile ( [
       fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante|2026.0.1"^^xsd:anyURI ;
       fhir:l <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante?version=2026.0.1>
     ] )
  ] ; # 
  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-Einfache-Variante</b></p><a name=\"MII-EXA-MTB-Einfache-Variante\"> </a><a name=\"hcMII-EXA-MTB-Einfache-Variante\"> </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-einfache-variante.html\">MII PR MTB Einfache Varianteversion: null2026.0.1)</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><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48000-4}\">Chromosome [Identifier] in Blood or Tissue by Molecular genetics method</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA21270-6}\">Chromosome 17</span></p></blockquote><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:1097}\">BRAF</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{https://www.ncbi.nlm.nih.gov/refseq/ NM_133433.4}\">NM_133433.4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 47999-8}\">DNA region name [Identifier]</span></p><p><b>value</b>: Exon #15</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 47999-8}\">DNA region name [Identifier]</span></p><p><b>value</b>: Codon #582 - #612</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 43044295-43125364</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_004333.4:c.1799T>A}\">NM_004333.4:c.1799T&gt;A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org p.(Val600Glu)}\">p.(Val600Glu)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 30.25 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/projects/SNP rs113488022}\">rs113488022</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 <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/Patient/example> ;
     fhir:reference [ fhir:v "Patient/example" ]
  ] ; # 
  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:method [
     fhir:coding ( [
       a loinc:LA26398-0 ;
       fhir:system [
         fhir:v "http://loinc.org"^^xsd:anyURI ;
         fhir:l <http://loinc.org>
       ] ;
       fhir:code [ fhir:v "LA26398-0" ] ;
       fhir:display [ fhir:v "Sequencing" ]
     ] )
  ] ; # 
  fhir:component ( [
     fhir:code [
       fhir:coding ( [
         a loinc:48000-4 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "48000-4" ]
       ] )
     ] ;
     fhir:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         a loinc:LA21270-6 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "LA21270-6" ] ;
         fhir:display [ fhir:v "Chromosome 17" ]
       ] )
     ]
  ] [
     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:1097" ] ;
         fhir:display [ fhir:v "BRAF" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:51958-7 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "51958-7" ]
       ] )
     ] ;
     fhir:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         fhir:system [
           fhir:v "https://www.ncbi.nlm.nih.gov/refseq/"^^xsd:anyURI ;
           fhir:l <https://www.ncbi.nlm.nih.gov/refseq/>
         ] ;
         fhir:code [ fhir:v "NM_133433.4" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:47999-8 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "47999-8" ] ;
         fhir:display [ fhir:v "DNA region name [Identifier]" ]
       ] )
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "Exon #15"
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:47999-8 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "47999-8" ] ;
         fhir:display [ fhir:v "DNA region name [Identifier]" ]
       ] )
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "Codon #582 - #612"
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:81254-5 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "81254-5" ]
       ] )
     ] ;
     fhir:value [
       a fhir:Range ;
       fhir:low [
         fhir:value [ fhir:v "43044295"^^xsd:decimal ]
       ] ;
       fhir:high [
         fhir:value [ fhir:v "43125364"^^xsd:decimal ]
       ]
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:48004-6 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "48004-6" ] ;
         fhir:display [ fhir:v "DNA change (c.HGVS)" ]
       ] )
     ] ;
     fhir:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         fhir:system [
           fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ;
           fhir:l <http://varnomen.hgvs.org>
         ] ;
         fhir:code [ fhir:v "NM_004333.4:c.1799T>A" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:48005-3 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "48005-3" ] ;
         fhir:display [ fhir:v "Amino acid change (pHGVS)" ]
       ] )
     ] ;
     fhir:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         fhir:system [
           fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ;
           fhir:l <http://varnomen.hgvs.org>
         ] ;
         fhir:code [ fhir:v "p.(Val600Glu)" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:81258-6 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "81258-6" ] ;
         fhir:display [ fhir:v "Sample variant allelic frequency [NFr]" ]
       ] )
     ] ;
     fhir:value [
       a fhir:Quantity ;
       fhir:value [ fhir:v 30.25 ] ;
       fhir:system [
         fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ;
         fhir:l <http://unitsofmeasure.org>
       ] ;
       fhir:code [ fhir:v "%" ]
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:81252-9 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "81252-9" ] ;
         fhir:display [ fhir:v "Discrete genetic variant" ]
       ] )
     ] ;
     fhir:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         fhir:system [
           fhir:v "http://www.ncbi.nlm.nih.gov/projects/SNP"^^xsd:anyURI ;
           fhir:l <http://www.ncbi.nlm.nih.gov/projects/SNP>
         ] ;
         fhir:code [ fhir:v "rs113488022" ]
       ] )
     ]
  ] ) . # 

# -------------------------------------------------------------------------------------