Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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 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: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 [
    a fhir:String ;
    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:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype>           ] )         ] ;
    fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\">Genotype</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:84413-4 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "84413-4" ] ;
    fhir:display [ fhir:v "Genotype display name" ]           ] )         ] ;
    fhir:subject [
    fhir:l fhir:Patient/CGPatientExample01 ;
    fhir:reference [ fhir:v "Patient/CGPatientExample01" ]         ] ;
    fhir:effective [
    a fhir:DateTime ;
    fhir:v "2023-07-01"^^xsd:date         ] ;
            ( fhir:performer [
    fhir:l fhir:Organization/ExampleOrg ;
    fhir:reference [ fhir:v "Organization/ExampleOrg" ]         ] ) ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.pharmvar.org"^^xsd:anyURI ;
    fhir:l <http://www.pharmvar.org>             ] ;
    fhir:code [ fhir:v "CYP2D6_*1/*1" ] ;
    fhir:display [ fhir:v "CYP2D6 *1/*1" ]           ] )         ] ;
    fhir:specimen [
    fhir:l fhir:Specimen/GenomicSpecimenExample01 ;
    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: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:2625" ] ;
    fhir:display [ fhir:v "CYP2D6" ]             ] )           ]         ] )       ] )     ] )
      ] [
    fhir:name [ fhir:v "haplotypes" ] ;
        ( fhir:part [
    fhir:name [ fhir:v "geneItem" ] ;
    fhir:value [
    a fhir:String ;
    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:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype>           ] )         ] ;
    fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\">Genotype</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:84413-4 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "84413-4" ] ;
    fhir:display [ fhir:v "Genotype display name" ]           ] )         ] ;
    fhir:subject [
    fhir:l fhir:Patient/CGPatientExample01 ;
    fhir:reference [ fhir:v "Patient/CGPatientExample01" ]         ] ;
    fhir:effective [
    a fhir:DateTime ;
    fhir:v "2023-07-01"^^xsd:date         ] ;
            ( fhir:performer [
    fhir:l fhir:Organization/ExampleOrg ;
    fhir:reference [ fhir:v "Organization/ExampleOrg" ]         ] ) ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.pharmvar.org"^^xsd:anyURI ;
    fhir:l <http://www.pharmvar.org>             ] ;
    fhir:code [ fhir:v "CYP2C19_*1/*2" ] ;
    fhir:display [ fhir:v "CYP2C19 *1/*2" ]           ] )         ] ;
    fhir:specimen [
    fhir:l fhir:Specimen/GenomicSpecimenExample01 ;
    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: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:2621" ] ;
    fhir:display [ fhir:v "CYP2C19" ]             ] )           ]         ] )       ] )     ] )
      ] ) . #