Genomics Reporting Implementation Guide
3.0.0 - release International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: FindSubjectHaplotypesOutput - 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 "FindSubjectHaplotypesOutput"] ; # 
  fhir:parameter ( [
fhir:name [ fhir:v "haplotypes" ] ;
    ( fhir:part [
fhir:name [ fhir:v "geneItem" ] ;
fhir:value [ fhir:v "http://www.genenames.org|HGNC:2625" ]     ] [
fhir:name [ fhir:v "genotype" ] ;
      ( fhir:Parameters.parameter.resource [
a fhir:Observation ;
fhir:id [ fhir:v "GenotypeCYP2D6" ] ;
fhir:meta [
          ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype>           ] )         ] ;
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Genotype</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:84413-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "84413-4" ] ;
fhir:display [ fhir:v "Genotype display name" ]           ] )         ] ;
fhir:subject [
fhir:reference [ fhir:v "Patient/CGPatientExample01" ]         ] ;
fhir:effective [ fhir:v "2023-07-01"^^xsd:date ] ;
        ( fhir:performer [
fhir:reference [ fhir:v "Organization/ExampleOrg" ]         ] ) ;
fhir:value [
a fhir:CodeableConcept ;
          ( fhir:coding [
fhir:system [ fhir:v "http://www.pharmvar.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "CYP2D6_*1/*1" ] ;
fhir:display [ fhir:v "CYP2D6 *1/*1" ]           ] )         ] ;
fhir:specimen [
fhir:reference [ fhir:v "Specimen/GenomicSpecimenExample01" ]         ] ;
        ( fhir:component [
fhir:code [
            ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
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:code [ fhir:v "HGNC:2625" ] ;
fhir:display [ fhir:v "CYP2D6" ]             ] )           ]         ] )       ] )     ] )
  ] [
fhir:name [ fhir:v "haplotypes" ] ;
    ( fhir:part [
fhir:name [ fhir:v "geneItem" ] ;
fhir:value [ fhir:v "http://www.genenames.org|HGNC:2621" ]     ] [
fhir:name [ fhir:v "genotype" ] ;
      ( fhir:Parameters.parameter.resource [
a fhir:Observation ;
fhir:id [ fhir:v "GenotypeCYP2C19" ] ;
fhir:meta [
          ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype>           ] )         ] ;
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Genotype</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:84413-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "84413-4" ] ;
fhir:display [ fhir:v "Genotype display name" ]           ] )         ] ;
fhir:subject [
fhir:reference [ fhir:v "Patient/CGPatientExample01" ]         ] ;
fhir:effective [ fhir:v "2023-07-01"^^xsd:date ] ;
        ( fhir:performer [
fhir:reference [ fhir:v "Organization/ExampleOrg" ]         ] ) ;
fhir:value [
a fhir:CodeableConcept ;
          ( fhir:coding [
fhir:system [ fhir:v "http://www.pharmvar.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "CYP2C19_*1/*2" ] ;
fhir:display [ fhir:v "CYP2C19 *1/*2" ]           ] )         ] ;
fhir:specimen [
fhir:reference [ fhir:v "Specimen/GenomicSpecimenExample01" ]         ] ;
        ( fhir:component [
fhir:code [
            ( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
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:code [ fhir:v "HGNC:2621" ] ;
fhir:display [ fhir:v "CYP2C19" ]             ] )           ]         ] )       ] )     ] )
  ] ) . #