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/owl#> .
@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 "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-haplotype1</p><p><b>status</b>: unknown</p><p><b>code</b>: 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>(Details : {LOINC code '55233-1' = 'Genetic analysis master panel - Blood or Tissue by Molecular genetics method', given as '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></p><p><b>subject</b>: <a>J*********** C***********</a></p><p><b>issued</b>: 03/04/2013 3:30:10 PM</p><p><b>value</b>: *35B <span>(Details : {http://pharmakb.org code 'PA165971587' = 'PA165971587', given as '*35B'})</span></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>Sequence/example-pgx-1</a></p></blockquote><blockquote><p><b>related</b></p><p><b>type</b>: derived-from</p><p><b>target</b>: <a>Sequence/example-pgx-2</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 "2625" ];
         fhir:Coding.display [ fhir:value "CYP2D6" ]
       ]
     ]
  ], [
     fhir:index 1;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence" ];
     fhir:Extension.valueReference [
       fhir:link <http://hl7.org/fhir/Sequence/example-sequence1>;
       fhir:Reference.reference [ fhir:value "Sequence/example-sequence1" ]
     ]
  ], [
     fhir:index 2;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence" ];
     fhir:Extension.valueReference [
       fhir:link <http://hl7.org/fhir/Sequence/example-sequence2>;
       fhir:Reference.reference [ fhir:value "Sequence/example-sequence2" ]
     ]
  ];
  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 "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.related [
     fhir:index 0;
     fhir:Observation.related.type [ fhir:value "derived-from" ];
     fhir:Observation.related.target [
       fhir:link <http://hl7.org/fhir/Sequence/example-pgx-1>;
       fhir:Reference.reference [ fhir:value "Sequence/example-pgx-1" ]
     ]
  ], [
     fhir:index 1;
     fhir:Observation.related.type [ fhir:value "derived-from" ];
     fhir:Observation.related.target [
       fhir:link <http://hl7.org/fhir/Sequence/example-pgx-2>;
       fhir:Reference.reference [ fhir:value "Sequence/example-pgx-2" ]
     ]
  ] .

<http://hl7.org/fhir/Sequence/example-sequence1> a fhir:Sequence .

<http://hl7.org/fhir/Sequence/example-sequence2> a fhir:Sequence .

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

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

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

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

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

<http://hl7.org/fhir/Observation/example-haplotype1.ttl> a owl:Ontology;
  owl:imports fhir:fhir.ttl;
  owl:versionIRI <http://hl7.org/fhir/STU3/Observation/example-haplotype1.ttl> .

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