FHIR Release 3 (STU)

This page is part of the FHIR Specification (v3.0.2: STU 3). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R4B R4 R3

Observation-example-phenotype.ttl

Orders and Observations Work GroupMaturity Level: N/ABallot Status: InformativeCompartments: Device, Encounter, Patient, Practitioner, RelatedPerson

Raw Turtle, JSON-LD

Example of phenotype 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-phenotype> a fhir:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "example-phenotype"];
  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-phenotype</p><p><b>status</b>: final</p><p><b>code</b>: CYP2C9 gene product metabolic activity interpretation <span>(Details : {LOINC code '79716-7' = 'CYP2C9 gene product metabolic activity interpretation in Blood or Tissue Qualitative by CPIC', given as 'CYP2C9 gene product metabolic activity interpretation'})</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>: Normal metabolizer <span>(Details : {LOINC code 'LA25391-6' = 'Normal metabolizer', given as 'Normal metabolizer'})</span></p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p><h3>Relateds</h3><table><tr><td>-</td><td><b>Type</b></td><td><b>Target</b></td></tr><tr><td>*</td><td>derived-from</td><td><a>Observation/example-diplotype1</a></td></tr></table></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.related [
     fhir:index 0;
     fhir:Observation.related.type [ fhir:value "derived-from" ];
     fhir:Observation.related.target [
       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://hl7.org/fhir/STU3/Observation/example-phenotype.ttl> .

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

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.