Observation-example-genetics-brcapat.ttl

Example of breast cancer genetic observation

@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-genetics-brcapat> a fhir:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "example-genetics-brcapat"];
  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>Exception generating Narrative: unknown extension http://hl7.org/fhir/StructureDefinition/us-core-ethnicity</b></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 "https://www.ncbi.nlm.nih.gov/nuccore" ];
         fhir:Coding.code [ fhir:value "KX470182.1" ];
         fhir:Coding.display [ fhir:value "BRCA" ]
       ]
     ]
  ], [
     fhir:index 1;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/us-core-ethnicity" ];
     fhir:Extension.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://browser.ihtsdotools.org/" ];
         fhir:Coding.code [ fhir:value "413581001" ];
         fhir:Coding.display [ fhir:value "Unknown racial group" ]
       ]
     ]
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:59041-4;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "59041-4" ];
       fhir:Coding.display [ fhir:value "BRCA1+BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal" ]
     ]
  ];
  fhir:Observation.subject [
     fhir:link <http://hl7.org/fhir/Patient/brcapat>;
     fhir:Reference.reference [ fhir:value "Patient/brcapat" ];
     fhir:Reference.display [ fhir:value "Patient1 with Breast Cancer FamilyHistory" ]
  ] .

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

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

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

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