Observation-example-diplotype1.ttl

Example of diplotype data (with haplotypes observation as reference)

@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

<http://hl7.org/fhir/Observation/example-diplotype1> a fhir:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "example-diplotype1"];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "extensions" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><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\">Resource &quot;example-diplotype1&quot; </p></div><p><b>Gene</b>: CYP2C9 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature</a>#2623)</span></p><p><b>status</b>: final</p><p><b>code</b>: The material on this page will be removed in a future release. This content is deprecated and SHOULD NOT be used. Implementers are instead directed to the ([Genomics Reporting Implementation Guide](http://hl7.org/fhir/uv/genomics-reporting/index.html)) for guidance. Diplotype Call <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://browser.ihtsdotools.org/\">SNOMED CT</a>#363779003 &quot;Genotype determination&quot;)</span></p><p><b>subject</b>: <a href=\"todo.html\">Patient/727127: J*********** C***********</a></p><p><b>effective</b>: 2013-04-03T15:30:10+01:00</p><p><b>device</b>: <a href=\"device-example.html\">Device/example</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"observation-example-haplotype1.html\">Observation/example-haplotype1</a></li><li><a href=\"observation-example-haplotype2.html\">Observation/example-haplotype2</a></li></ul></div>"
  ];
  fhir:DomainResource.extension [
     fhir:index 0;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene" ];
     fhir:Extension.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org" ];
         fhir:Coding.code [ fhir:value "2623" ];
         fhir:Coding.display [ fhir:value "CYP2C9" ]
       ]
     ]
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a sct:363779003;
       fhir:Coding.system [ fhir:value "http://snomed.info/sct" ];
       fhir:Coding.code [ fhir:value "363779003" ];
       fhir:Coding.display [ fhir:value "Genotype determination" ]
     ];
     fhir:CodeableConcept.text [ fhir:value "The material on this page will be removed in a future release. This content is deprecated and SHOULD NOT be used. Implementers are instead directed to the ([Genomics Reporting Implementation Guide](http://hl7.org/fhir/uv/genomics-reporting/index.html)) for guidance. Diplotype Call" ]
  ];
  fhir:Observation.subject [
     fhir:link <http://hl7.org/fhir/Patient/727127>;
     fhir:Reference.reference [ fhir:value "Patient/727127" ];
     fhir:Reference.display [ fhir:value "J*********** C***********" ]
  ];
  fhir:Observation.effectiveDateTime [ fhir:value "2013-04-03T15:30:10+01:00"^^xsd:dateTime];
  fhir:Observation.device [
     fhir:link <http://hl7.org/fhir/Device/example>;
     fhir:Reference.reference [ fhir:value "Device/example" ]
  ];
  fhir:Observation.derivedFrom [
     fhir:index 0;
     fhir:link <http://hl7.org/fhir/Observation/example-haplotype1>;
     fhir:Reference.reference [ fhir:value "Observation/example-haplotype1" ]
  ], [
     fhir:index 1;
     fhir:link <http://hl7.org/fhir/Observation/example-haplotype2>;
     fhir:Reference.reference [ fhir:value "Observation/example-haplotype2" ]
  ] .

<http://hl7.org/fhir/Patient/727127> a fhir:Patient .

<http://hl7.org/fhir/Device/example> a fhir:Device .

<http://hl7.org/fhir/Observation/example-haplotype1> a fhir:Observation .

<http://hl7.org/fhir/Observation/example-haplotype2> a fhir:Observation .

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

<http://hl7.org/fhir/Observation/example-diplotype1.ttl> a owl:Ontology;
  owl:imports fhir:fhir.ttl;
  owl:versionIRI <http://build.fhir.org/Observation/example-diplotype1.ttl> .

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