Genomics Reporting Implementation Guide
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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

: FindSubjectSpecificHaplotypesOutput - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://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 -------------------------------------------------------------------

<http://hl7.org/fhir/Parameters/FindSubjectSpecificHaplotypesOutput> a fhir:Parameters ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "FindSubjectSpecificHaplotypesOutput"] ;
  fhir:Parameters.parameter [
     fhir:index 0 ;
     fhir:Parameters.parameter.name [ fhir:value "haplotypes" ] ;
     fhir:Parameters.parameter.part [
       fhir:index 0 ;
       fhir:Parameters.parameter.name [ fhir:value "haplotypeItem" ] ;
       fhir:Parameters.parameter.valueString [ fhir:value "HLA-A*23" ]
     ], [
       fhir:index 1 ;
       fhir:Parameters.parameter.name [ fhir:value "presence" ] ;
       fhir:Parameters.parameter.valueBoolean [ fhir:value "true"^^xsd:boolean ]
     ], [
       fhir:index 2 ;
       fhir:Parameters.parameter.name [ fhir:value "genotype" ] ;
       fhir:Parameters.parameter.resource [
         a fhir:Observation ;
         fhir:Resource.id [ fhir:value "Genotype7" ] ;
         fhir:Resource.meta [
           fhir:Meta.profile [
             fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype" ;
             fhir:index 0 ;
             fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype>
           ]
         ] ;
         fhir:DomainResource.text [
           fhir:Narrative.status [ fhir:value "generated" ] ;
           fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Genotype</div>"
         ] ;
         fhir:Observation.status [ fhir:value "final" ] ;
         fhir:Observation.category [
           fhir:index 0 ;
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ;
             fhir:Coding.code [ fhir:value "laboratory" ]
           ]
         ], [
           fhir:index 1 ;
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ;
             fhir:Coding.code [ fhir:value "GE" ]
           ]
         ] ;
         fhir:Observation.code [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             a loinc:84413-4 ;
             fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
             fhir:Coding.code [ fhir:value "84413-4" ] ;
             fhir:Coding.display [ fhir:value "Genotype display name" ]
           ]
         ] ;
         fhir:Observation.subject [
           fhir:link <http://hl7.org/fhir/Patient/CGPatientExample01> ;
           fhir:Reference.reference [ fhir:value "Patient/CGPatientExample01" ]
         ] ;
         fhir:Observation.effectiveDateTime [ fhir:value "2023-07-01"^^xsd:date ] ;
         fhir:Observation.performer [
           fhir:index 0 ;
           fhir:link <http://hl7.org/fhir/Organization/ExampleOrg> ;
           fhir:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
         ] ;
         fhir:Observation.valueCodeableConcept [
           fhir:CodeableConcept.coding [
             fhir:index 0 ;
             fhir:Coding.system [ fhir:value "http://glstring.org" ] ;
             fhir:Coding.version [ fhir:value "1.0" ] ;
             fhir:Coding.code [ fhir:value "hla#3.33.0#HLA-A*02:69+HLA-A*23:30|HLA-A*02:302+HLA-A*23:26/HLA-A*23:39" ] ;
             fhir:Coding.display [ fhir:value "hla#3.33.0#HLA-A*02:69+HLA-A*23:30|HLA-A*02:302+HLA-A*23:26/HLA-A*23:39" ]
           ]
         ] ;
         fhir:Observation.specimen [
           fhir:link <http://hl7.org/fhir/Specimen/GenomicSpecimenExample01> ;
           fhir:Reference.reference [ fhir:value "Specimen/GenomicSpecimenExample01" ]
         ] ;
         fhir:Observation.component [
           fhir:index 0 ;
           fhir:Observation.component.code [
             fhir:CodeableConcept.coding [
               fhir:index 0 ;
               a loinc:48018-6 ;
               fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
               fhir:Coding.code [ fhir:value "48018-6" ] ;
               fhir:Coding.display [ fhir:value "Gene studied [ID]" ]
             ]
           ] ;
           fhir:Observation.component.valueCodeableConcept [
             fhir:CodeableConcept.coding [
               fhir:index 0 ;
               fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ;
               fhir:Coding.code [ fhir:value "HGNC:4931" ] ;
               fhir:Coding.display [ fhir:value "HLA-A" ]
             ]
           ]
         ]
       ]
     ]
  ] .

<http://hl7.org/fhir/Patient/CGPatientExample01> a fhir:Patient .

<http://hl7.org/fhir/Organization/ExampleOrg> a fhir:Organization .

<http://hl7.org/fhir/Specimen/GenomicSpecimenExample01> a fhir:Specimen .

# - ontology header ------------------------------------------------------------

<http://hl7.org/fhir/Parameters/FindSubjectSpecificHaplotypesOutput.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/Parameters/FindSubjectSpecificHaplotypesOutput.ttl> .