Observation-example-phenotype.ttl

Example of phenotype 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-phenotype> a fhir:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "example-phenotype"];
  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><p><b>Gene</b>: <span>CYP2C9</span></p><p/><p><b>code</b>: <span>CYP2C9 gene product metabolic activity interpretation</span></p><p><b>subject</b>: <a>J*********** C***********</a></p><p><b>issued</b>: 4 Apr. 2013, 1:30:10 am</p><p><b>value</b>: <span>Normal metabolizer</span></p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p><p><b>derivedFrom</b>: <a>Generated Summary: <span>Diplotype Call</span>; issued: 4 Apr. 2013, 1:30:10 am</a></p></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 loinc:79716-7;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "79716-7" ];
       fhir:Coding.display [ fhir:value "CYP2C9 gene product metabolic activity interpretation" ]
     ]
  ];
  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;
       a loinc:LA25391-6;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA25391-6" ];
       fhir:Coding.display [ fhir:value "Normal metabolizer" ]
     ]
  ];
  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/Observation/example-diplotype1>;
     fhir:Reference.reference [ fhir:value "Observation/example-diplotype1" ]
  ] .

<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-diplotype1> a fhir:Observation .

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

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

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