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 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 "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: example-diplotype1</p><p><b>status</b>: final</p><p><b>code</b>: Diplotype Call <span>(Details : {SNOMED CT code '363779003' = '363779003', given as 'Genotype determination'})</span></p><p><b>subject</b>: <a>J*********** C***********</a></p><p><b>issued</b>: 03/04/2013 3:30:10 PM</p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p><blockquote><p><b>related</b></p><p><b>type</b>: derived-from</p><p><b>target</b>: <a>Observation/example-haplotype1</a></p></blockquote><blockquote><p><b>related</b></p><p><b>type</b>: derived-from</p><p><b>target</b>: <a>Observation/example-haplotype2</a></p></blockquote></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;
       fhir:Coding.system [ fhir:value "http://snomed.info" ];
       fhir:Coding.code [ fhir:value "363779003" ];
       fhir:Coding.display [ fhir:value "Genotype determination" ]
     ];
     fhir:CodeableConcept.text [ fhir:value "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.issued [ fhir:value "2013-04-03T15:30:10+01:00"^^xsd:dateTime];
  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.related [
     fhir:index 0;
     fhir:Observation.related.type [ fhir:value "derived-from" ];
     fhir:Observation.related.target [
       fhir:link <http://hl7.org/fhir/Observation/example-haplotype1>;
       fhir:Reference.reference [ fhir:value "Observation/example-haplotype1" ]
     ]
  ], [
     fhir:index 1;
     fhir:Observation.related.type [ fhir:value "derived-from" ];
     fhir:Observation.related.target [
       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/Specimen/genetics-example1-somatic> a fhir:Specimen .

<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://hl7.org/fhir/STU3/Observation/example-diplotype1.ttl> .

# -------------------------------------------------------------------------------------