NHS North West Genomics
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NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions

: Variant - NTHL1 - 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 "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-Variant"^^xsd:anyURI ;
fhir:l <https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-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 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99</b></p><a name=\"8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </a><a name=\"hc8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </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-Observation-Variant.html\">Observation Variant</a></p></div><p><b>identifier</b>: 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>, <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-Patient-Liverpool.html\">Paul LIVERPOOL</a></p><p><b>effective</b>: 2025-10-23 10:37:26+0000</p><p><b>performer</b>: <a href=\"PractitionerRole-59577028-8fcc-4554-8b43-988561d41d9c.html\">PractitionerRole</a></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398}\">Sequencing</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 HGNC:89753}\">NTHL1</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:{http://www.ncbi.nlm.nih.gov/refseq NM_000249}\">NM_000249</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_000003.11}\">NC_000003.11</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NG_007109.2:g.40514dupC}\">NG_007109.2:g.40514dupC</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 LA6686-5}\">Duplication</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></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><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele</span></p><p><b>value</b>: C</p></blockquote></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:identifier ( [
fhir:value [ fhir:v "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99" ]
  ] ) ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:category ( [
    ( 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:display [ fhir:v "Genetics" ]     ] )
  ] [
    ( 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: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/Patient-Liverpool ;
fhir:reference [ fhir:v "Patient/Patient-Liverpool" ] ;
fhir:display [ fhir:v "Paul LIVERPOOL" ]
  ] ; # 
  fhir:effective [
a fhir:DateTime ;
fhir:v "2025-10-23T10:37:26+00:00"^^xsd:dateTime
  ] ; # 
  fhir:performer ( [
fhir:l fhir:PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c ;
fhir:reference [ fhir:v "PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c" ]
  ] ) ; # 
  fhir:method [
    ( fhir:coding [
a loinc:LA26398 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>       ] ;
fhir:code [ fhir:v "LA26398" ] ;
fhir:display [ fhir:v "Sequencing" ]     ] )
  ] ; # 
  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"^^xsd:anyURI ;
fhir:l <http://www.genenames.org>         ] ;
fhir:code [ fhir:v "HGNC:89753" ] ;
fhir:display [ fhir:v "NTHL1" ]       ] )     ]
  ] [
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:display [ fhir:v "Transcript reference sequence [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [
fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ;
fhir:l <http://www.ncbi.nlm.nih.gov/refseq>         ] ;
fhir:code [ fhir:v "NM_000249" ]       ] )     ]
  ] [
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:display [ fhir:v "Genomic DNA change (gHGVS)" ]       ] )     ] ;
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_000003.11" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:48013-7 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "48013-7" ] ;
fhir:display [ fhir:v "Genomic reference sequence [ID]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [
fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ;
fhir:l <http://www.ncbi.nlm.nih.gov/refseq>         ] ;
fhir:code [ fhir:v "NG_007109.2:g.40514dupC" ]       ] )     ]
  ] [
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:display [ fhir:v "DNA change type" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6686-5 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "LA6686-5" ] ;
fhir:display [ fhir:v "Duplication" ]       ] )     ]
  ] [
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:display [ fhir:v "Genomic source class" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6683-2 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "LA6683-2" ] ;
fhir:display [ fhir:v "Germline" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:53034-5 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "53034-5" ] ;
fhir:display [ fhir:v "Allelic state" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6706-1 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "LA6706-1" ] ;
fhir:display [ fhir:v "Heterozygous" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:69547-8 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org>         ] ;
fhir:code [ fhir:v "69547-8" ] ;
fhir:display [ fhir:v "Genomic ref allele" ]       ] )     ] ;
fhir:value [
a fhir:String ;
fhir:v "C"     ]
  ] ) . #