Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build 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 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

: genotype-hla-a-glstring-r4 - TTL Representation

Page standards status: Informative

Raw ttl | Download


@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/Observation/genotype-hla-a-glstring-r4> a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "genotype-hla-a-glstring-r4"] ;
  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\"><p class=\"res-header-id\"><b>Generated Narrative: Observation genotype-hla-a-glstring-r4</b></p><a name=\"genotype-hla-a-glstring-r4\"> </a><a name=\"hcgenotype-hla-a-glstring-r4\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genotype.html\">Genotype</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84413-4}, {http://loinc.org 57290-9}\">Genotype display name</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2018-07-26</p><p><b>performer</b>: aTypingLab, Inc</p><p><b>value</b>: <span title=\"Codes:{http://glstring.org hla#3.31.0#HLA-A*03:01:01:01+HLA-A*30:01:01}\">hla#3.31.0#HLA-A*03:01:01:01+HLA-A*30:01:01</span></p><p><b>method</b>: <span title=\"Codes:\">PACBIO Sequel</span></p><p><b>specimen</b>: <a href=\"Specimen-specimen-hla-r4.html\">Specimen: identifier = http://example.org#001^123456789; type = Buccal smear sample; receivedTime = 2018-05-01</a></p><p><b>derivedFrom</b>: <a href=\"Observation-haplotype-hla-a-1-r4.html\">Observation Haplotype name</a></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:4931}\">HLA-A</span></td></tr></table></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:index 1 ;
       a loinc:57290-9 ;
       fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
       fhir:Coding.code [ fhir:value "57290-9" ] ;
       fhir:Coding.display [ fhir:value "HLA-A [Type] by High resolution" ]
     ]
  ] ;
  fhir:Observation.subject [
     fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ;
     fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ]
  ] ;
  fhir:Observation.effectiveDateTime [ fhir:value "2018-07-26"^^xsd:date] ;
  fhir:Observation.performer [
     fhir:index 0 ;
     fhir:Reference.type [ fhir:value "Organization" ] ;
     fhir:Reference.display [ fhir:value "aTypingLab, Inc" ]
  ] ;
  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#3.31.0#HLA-A*03:01:01:01+HLA-A*30:01:01" ]
     ]
  ] ;
  fhir:Observation.method [
     fhir:CodeableConcept.text [ fhir:value "PACBIO Sequel" ]
  ] ;
  fhir:Observation.specimen [
     fhir:link <http://hl7.org/fhir/Specimen/specimen-hla-r4> ;
     fhir:Reference.reference [ fhir:value "Specimen/specimen-hla-r4" ]
  ] ;
  fhir:Observation.derivedFrom [
     fhir:index 0 ;
     fhir:link <http://hl7.org/fhir/Observation/haplotype-hla-a-1-r4> ;
     fhir:Reference.reference [ fhir:value "Observation/haplotype-hla-a-1-r4" ]
  ] ;
  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/ExamplePatient> a fhir:Patient .

<http://hl7.org/fhir/Specimen/specimen-hla-r4> a fhir:Specimen .

<http://hl7.org/fhir/Observation/haplotype-hla-a-1-r4> a fhir:Observation .

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

<http://hl7.org/fhir/Observation/genotype-hla-a-glstring-r4.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/Observation/genotype-hla-a-glstring-r4.ttl> .