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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 "FindSubjectSpecificHaplotypesOutput"] ; #
fhir:parameter ( [
fhir:name [ fhir:v "haplotypes" ] ;
( fhir:part [
fhir:name [ fhir:v "haplotypeItem" ] ;
fhir:value [ fhir:v "HLA-A*23" ] ] [
fhir:name [ fhir:v "presence" ] ;
fhir:value [ fhir:v "true"^^xsd:boolean ] ] [
fhir:name [ fhir:v "genotype" ] ;
( fhir:Parameters.parameter.resource [
a fhir:Observation ;
fhir:id [ fhir:v "Genotype7" ] ;
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://glstring.org"^^xsd:anyURI ] ;
fhir:version [ fhir:v "1.0" ] ;
fhir:code [ fhir:v "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:display [ fhir:v "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: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:4931" ] ;
fhir:display [ fhir:v "HLA-A" ] ] ) ] ] ) ] ) ] )
] ) . #
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0 based on FHIR 4.0.1. Generated 2024-12-12
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