Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: FindSubjectSpecificVariantsOutput - 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 rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:Parameters ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "FindSubjectSpecificVariantsOutput"] ; # 
  fhir:parameter ( [
fhir:name [ fhir:v "variants" ] ;
    ( fhir:part [
fhir:name [ fhir:v "variantItem" ] ;
fhir:value [ fhir:v "NM_001354609.2:c.1799T>A" ]     ] [
fhir:name [ fhir:v "presence" ] ;
fhir:value [ fhir:v "false"^^xsd:boolean ]     ] )
  ] [
fhir:name [ fhir:v "variants" ] ;
    ( fhir:part [
fhir:name [ fhir:v "variantItem" ] ;
fhir:value [ fhir:v "NM_007294.4:c.5559C>A" ]     ] [
fhir:name [ fhir:v "presence" ] ;
fhir:value [ fhir:v "false"^^xsd:boolean ]     ] )
  ] [
fhir:name [ fhir:v "variants" ] ;
    ( fhir:part [
fhir:name [ fhir:v "variantItem" ] ;
fhir:value [ fhir:v "NM_001354609.2:c.1802=" ]     ] [
fhir:name [ fhir:v "presence" ] ;
fhir:value [ fhir:v "false"^^xsd:boolean ]     ] )
  ] [
fhir:name [ fhir:v "variants" ] ;
    ( fhir:part [
fhir:name [ fhir:v "variantItem" ] ;
fhir:value [ fhir:v "NC_000001.10:g.12225351T>A" ]     ] [
fhir:name [ fhir:v "presence" ] ;
fhir:value [ fhir:v "false"^^xsd:boolean ]     ] )
  ] [
fhir:name [ fhir:v "variants" ] ;
    ( fhir:part [
fhir:name [ fhir:v "variantItem" ] ;
fhir:value [ fhir:v "NM_000038.6:c.55G>T" ]     ] [
fhir:name [ fhir:v "presence" ] ;
fhir:value [ fhir:v "true"^^xsd:boolean ]     ] [
fhir:name [ fhir:v "variant" ] ;
      ( fhir:Parameters.parameter.resource [
a fhir:Observation ;
fhir:id [ fhir:v "dv-5a7f781e83514" ] ;
fhir:meta [
          ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>           ] )         ] ;
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Variant</div>"         ] ;
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:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ] ;
fhir:code [ fhir:v "GE" ]           ] )         ] ) ;
fhir:code [
          ( fhir:coding [
a loinc:69548-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "69548-6" ] ;
fhir:display [ fhir:v "Genetic variant assessment" ]           ] )         ] ;
fhir:subject [
fhir:reference [ fhir:v "Patient/HG00403" ]         ] ;
fhir:effective [ fhir:v "2023-07-01"^^xsd:date ] ;
        ( fhir:performer [
fhir:reference [ fhir:v "Organization/ExampleOrg" ]         ] ) ;
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:display [ fhir:v "Present" ]           ] )         ] ;
        ( fhir:component [
fhir:code [
            ( fhir:coding [
a loinc:48002-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48002-0" ] ;
fhir:display [ fhir:v "Genomic source class [Type]" ]             ] )           ] ;
fhir:value [
a fhir:CodeableConcept ;
            ( fhir:coding [
a loinc:LA6683-2 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6683-2" ] ;
fhir:display [ fhir:v "Germline" ]             ] )           ]         ] [
fhir:code [
            ( fhir:coding [
a loinc:48013-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
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:code [ fhir:v "NC_000005.9" ]             ] )           ]         ] [
fhir:code [
            ( fhir:coding [
a loinc:53034-5 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
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: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:code [ fhir:v "69547-8" ] ;
fhir:display [ fhir:v "Genomic Ref allele [ID]" ]             ] )           ] ;
fhir:value [ fhir:v "G" ]         ] [
fhir:code [
            ( fhir:coding [
a loinc:69551-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "69551-0" ] ;
fhir:display [ fhir:v "Genomic Alt allele [ID]" ]             ] )           ] ;
fhir:value [ fhir:v "T" ]         ] [
fhir:code [
            ( fhir:coding [
a loinc:92822-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "92822-6" ] ;
fhir:display [ fhir:v "Genomic coord system" ]             ] )           ] ;
fhir:value [
a fhir:CodeableConcept ;
            ( fhir:coding [
a loinc:LA30100-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA30100-4" ] ;
fhir:display [ fhir:v "0-based interval counting" ]             ] )           ]         ] [
fhir:code [
            ( fhir:coding [
a loinc:81254-5 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81254-5" ]             ] ) ;
fhir:text [ fhir:v "Genomic allele start-end" ]           ] ;
fhir:value [
a fhir:Range ;
fhir:low [
fhir:value [ fhir:v "112090641"^^xsd:decimal ]             ]           ]         ] )       ] )     ] )
  ] ) . #