FHIR Osiris Implementation Guide
1.1.0 - trial-implementation

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## : fhir-osiris-example-snp-1 - 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 "fhir-osiris-example-snp-1"] ; #
      fhir:meta [
        ( fhir:profile [
    fhir:v "https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/snp"^^xsd:anyURI ;
    fhir:link <https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/snp>     ] )
      ] ; #
      fhir:text [
    fhir:status [ fhir:v "extensions" ] ;
    fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation fhir-osiris-example-snp-1</b></p><a name=\"fhir-osiris-example-snp-1\"> </a><a name=\"hcfhir-osiris-example-snp-1\"> </a><a name=\"fhir-osiris-example-snp-1-en-US\"> </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\">Profil: <a href=\"StructureDefinition-snp.html\">Single Nucleotide Polymorphism</a></p></div><p><b>Strand bias</b>: false</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</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-L304.html\">Patient Anonyme Male, Date de Naissance :1967-11-08</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>derivedFrom</b>: <a href=\"Observation-fhir-osiris-example-sequencinganalysis-1.html\">Observation Omic</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes:\">hg19</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6690-7}\">Substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6684-0}\">Somatic</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>: 31</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Genomic alt allele [ID]</span></p><p><b>value</b>: A</p></blockquote><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 LA21256-5}\">Chromosome 3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org LP232001-0}\">Genetic variant details</span></p><p><b>value</b>: 6</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>: 178916948-178916948</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</span></p></blockquote></div>"^^rdf:XMLLiteral
      ] ; #
      fhir:extension ( [
    fhir:url [ fhir:v "https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/strand-bias"^^xsd:anyURI ] ;
    fhir:value [
    a fhir:boolean ;
    fhir:v false     ]
      ] ) ; #
      fhir:status [ fhir:v "final"] ; #
      fhir:category ( [
        ( fhir:coding [
    fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "laboratory" ]     ] )
      ] ) ; #
      fhir:code [
        ( fhir:coding [
    a loinc:69548-6 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "69548-6" ]     ] )
      ] ; #
      fhir:subject [
    fhir:reference [ fhir:v "Patient/L304" ]
      ] ; #
      fhir:value [
    a fhir:CodeableConcept ;
        ( fhir:coding [
    a loinc:LA9633-4 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "LA9633-4" ]     ] )
      ] ; #
      fhir:derivedFrom ( [
    fhir:reference [ fhir:v "Observation/fhir-osiris-example-sequencinganalysis-1" ]
      ] ) ; #
      fhir:component ( [
    fhir:code [
          ( fhir:coding [
    a loinc:62374-4 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "62374-4" ]       ] )     ] ;
    fhir:value [
    a fhir:CodeableConcept ;
          ( fhir:coding [
    fhir:code [ fhir:v "hg19" ]       ] )     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:48019-4 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "48019-4" ]       ] )     ] ;
    fhir:value [
    a fhir:CodeableConcept ;
          ( fhir:coding [
    a loinc:LA6690-7 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "LA6690-7" ]       ] )     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:48002-0 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "48002-0" ]       ] )     ] ;
    fhir:value [
    a fhir:CodeableConcept ;
          ( fhir:coding [
    a loinc:LA6684-0 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "LA6684-0" ]       ] )     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:82121-5 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "82121-5" ]       ] )     ] ;
    fhir:value [
    a fhir:Quantity ;
    fhir:value [ fhir:v "31"^^xsd:decimal ]     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:69547-8 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "69547-8" ]       ] )     ] ;
    fhir:value [
    a fhir:string ;
    fhir:v "T"     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:69551-0 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "69551-0" ]       ] )     ] ;
    fhir:value [
    a fhir:string ;
    fhir:v "A"     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:48000-4 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "48000-4" ]       ] )     ] ;
    fhir:value [
    a fhir:CodeableConcept ;
          ( fhir:coding [
    a loinc:LA21256-5 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "LA21256-5" ]       ] )     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:LP232001-0 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "LP232001-0" ]       ] )     ] ;
    fhir:value [
    a fhir:Quantity ;
    fhir:value [ fhir:v "6"^^xsd:decimal ]     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:81254-5 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "81254-5" ]       ] )     ] ;
    fhir:value [
    a fhir:Range ;
    fhir:low [
    fhir:value [ fhir:v "178916948"^^xsd:decimal ]       ] ;
    fhir:high [
    fhir:value [ fhir:v "178916948"^^xsd:decimal ]       ]     ]
      ] [
    fhir:code [
          ( fhir:coding [
    a loinc:53034-5 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "53034-5" ]       ] )     ] ;
    fhir:value [
    a fhir:CodeableConcept ;
          ( fhir:coding [
    a loinc:LA6706-1 ;
    fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "LA6706-1" ]       ] )     ]
      ] ) . #