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

<http://hl7.org/fhir/uv/genomics-reporting/Observation/NTHL1-snv-var> a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "NTHL1-snv-var"] ; # 
  fhir:meta [
     fhir:profile ( [
       fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"^^xsd:anyURI ;
       fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>
     ] )
  ] ; # 
  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 NTHL1-snv-var</b></p><a name=\"NTHL1-snv-var\"> </a><a name=\"hcNTHL1-snv-var\"> </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-variant.html\">Variant</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}\">Genetics</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-somaticPatient.html\">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --&gt; (ongoing)))</a></p><p><b>effective</b>: 2023-02-01</p><p><b>performer</b>: <a href=\"Practitioner-pathologistPractitioner.html\">Practitioner Test Dolin </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 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NP_002519.2:p.Trp243Ter}\">NP_002519.2:p.Trp243Ter</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://www.sequenceontology.org SO:0001483}\">SNV</span></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_002528.7:c.728G>A}\">NM_002528.7:c.728G&gt;A</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 HGNC:8028}\">NTHL1</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/clinvar 962538}\">NM_002528.7(NTHL1):c.728G&gt;A (p.Trp243Ter)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NC_000016.10:g.2040196C>T}\">NC_000016.10:g.2040196C&gt;T</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></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: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:subject [
     fhir:l <http://hl7.org/fhir/uv/genomics-reporting/Patient/somaticPatient> ;
     fhir:reference [ fhir:v "Patient/somaticPatient" ]
  ] ; # 
  fhir:effective [
     a fhir:DateTime ;
     fhir:v "2023-02-01"^^xsd:date
  ] ; # 
  fhir:performer ( [
     fhir:l <http://hl7.org/fhir/uv/genomics-reporting/Practitioner/pathologistPractitioner> ;
     fhir:reference [ fhir:v "Practitioner/pathologistPractitioner" ]
  ] ) ; # 
  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:48005-3 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "48005-3" ]
       ] )
     ] ;
     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 "NP_002519.2:p.Trp243Ter" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:48019-4 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "48019-4" ]
       ] )
     ] ;
     fhir:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         fhir:system [
           fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
           fhir:l <http://www.sequenceontology.org>
         ] ;
         fhir:code [ fhir:v "SO:0001483" ] ;
         fhir:display [ fhir:v "SNV" ]
       ] )
     ]
  ] [
     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: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_002528.7:c.728G>A" ]
       ] )
     ]
  ] [
     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:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         fhir:system [
           fhir:v "http://www.genenames.org"^^xsd:anyURI ;
           fhir:l <http://www.genenames.org>
         ] ;
         fhir:code [ fhir:v "HGNC:8028" ] ;
         fhir:display [ fhir:v "NTHL1" ]
       ] )
     ]
  ] [
     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:value [
       a fhir:CodeableConcept ;
       fhir:coding ( [
         fhir:system [
           fhir:v "http://www.ncbi.nlm.nih.gov/clinvar"^^xsd:anyURI ;
           fhir:l <http://www.ncbi.nlm.nih.gov/clinvar>
         ] ;
         fhir:code [ fhir:v "962538" ] ;
         fhir:display [ fhir:v "NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter)" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:81290-9 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "81290-9" ]
       ] )
     ] ;
     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 "NC_000016.10:g.2040196C>T" ]
       ] )
     ]
  ] [
     fhir:code [
       fhir:coding ( [
         a loinc:48002-0 ;
         fhir:system [
           fhir:v "http://loinc.org"^^xsd:anyURI ;
           fhir:l <http://loinc.org>
         ] ;
         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:l <http://loinc.org>
         ] ;
         fhir:code [ fhir:v "LA6684-0" ] ;
         fhir:display [ fhir:v "Somatic" ]
       ] )
     ]
  ] ) . # 

<http://hl7.org/fhir/uv/genomics-reporting/Patient/somaticPatient> a fhir:Uv .

<http://hl7.org/fhir/uv/genomics-reporting/Practitioner/pathologistPractitioner> a fhir:Uv .

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