Observation-example-haplotype1.ttl

Example of haplotype data that is basis of a diplotype data

@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/example-haplotype1> a fhir:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "example-haplotype1"];
  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><p>Resource &quot;example-haplotype1&quot; </p></div><p><b>Gene</b>: CYP2D6 <span> (<a>HUGO Gene Nomenclature</a>#2625)</span></p><p><b>status</b>: unknown</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. Genetic analysis master panel-- This is the parent OBR for the panel holding all of the associated observations that can be reported with a molecular genetics analysis result. <span> (<a>LOINC</a>#55233-1)</span></p><p><b>subject</b>: <a>Patient/727127: J*********** C***********</a></p><p><b>issued</b>: 4 Apr. 2013, 1:30:10 am</p><p><b>value</b>: *35B <span> (pharmakb.org#PA165971587)</span></p><p><b>specimen</b>: <a>Specimen/genetics-example1-somatic: Molecular Specimen ID: MLD45-Z4-1234</a></p><p><b>derivedFrom</b>: </p><ul><li><a>MolecularSequence/example-pgx-1</a></li><li><a>MolecularSequence/example-pgx-2</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 "2625" ];
         fhir:Coding.display [ fhir:value "CYP2D6" ]
       ]
     ]
  ];
  fhir:Observation.status [ fhir:value "unknown"];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:55233-1;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "55233-1" ];
       fhir:Coding.display [ 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. Genetic analysis master panel-- This is the parent OBR for the panel holding all of the associated observations that can be reported with a molecular genetics analysis result." ]
     ]
  ];
  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.issued [ fhir:value "2013-04-03T15:30:10+01:00"^^xsd:dateTime];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://pharmakb.org" ];
       fhir:Coding.code [ fhir:value "PA165971587" ];
       fhir:Coding.display [ fhir:value "*35B" ]
     ]
  ];
  fhir:Observation.specimen [
     fhir:link <http://hl7.org/fhir/Specimen/genetics-example1-somatic>;
     fhir:Reference.reference [ fhir:value "Specimen/genetics-example1-somatic" ];
     fhir:Reference.display [ fhir:value "Molecular Specimen ID: MLD45-Z4-1234" ]
  ];
  fhir:Observation.derivedFrom [
     fhir:index 0;
     fhir:link <http://hl7.org/fhir/MolecularSequence/example-pgx-1>;
     fhir:Reference.reference [ fhir:value "MolecularSequence/example-pgx-1" ]
  ], [
     fhir:index 1;
     fhir:link <http://hl7.org/fhir/MolecularSequence/example-pgx-2>;
     fhir:Reference.reference [ fhir:value "MolecularSequence/example-pgx-2" ]
  ] .

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

<http://hl7.org/fhir/Specimen/genetics-example1-somatic> a fhir:Specimen .

<http://hl7.org/fhir/MolecularSequence/example-pgx-1> a fhir:MolecularSequence .

<http://hl7.org/fhir/MolecularSequence/example-pgx-2> a fhir:MolecularSequence .

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

<http://hl7.org/fhir/Observation/example-haplotype1.ttl> a owl:Ontology;
  owl:imports fhir:fhir.ttl;
  owl:versionIRI <http://build.fhir.org/Observation/example-haplotype1.ttl> .

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