Observation-example-genetics-1.ttl

Genetics example 1

@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 sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

<http://hl7.org/fhir/Observation/example-genetics-1> a fhir:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "example-genetics-1"];
  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><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource &quot;example-genetics-1&quot; </p></div><p><b>Gene</b>: EGFR <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature</a>#3236)</span></p><p><b>DNARegionName</b>: Exon 21</p><p><b>GenomicSourceClass</b>: somatic <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6684-0)</span></p><p><b>status</b>: final</p><p><b>code</b>: The material on this page will be removed in a future release. This content is deprecated and SHOULD NOT be used. Implementers are instead directed to the ([Genomics Reporting Implementation Guide](http://hl7.org/fhir/uv/genomics-reporting/index.html)) for guidance. 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 style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#55233-1)</span></p><p><b>subject</b>: <a href=\"patient-example.html\">Patient/example: Molecular Lab Patient ID: HOSP-23456</a> &quot;Peter CHALMERS&quot;</p><p><b>effective</b>: 2013-04-03T15:30:10+01:00</p><p><b>performer</b>: <a href=\"practitioner-example.html\">Practitioner/example: Molecular Diagnostics Laboratory</a> &quot;Adam CAREFUL&quot;</p><p><b>value</b>: Positive <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://browser.ihtsdotools.org/\">SNOMED CT</a>#10828004)</span></p><p><b>device</b>: <a href=\"device-example.html\">Device/example</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 "3236" ];
         fhir:Coding.display [ fhir:value "EGFR" ]
       ]
     ]
  ], [
     fhir:index 1;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName" ];
     fhir:Extension.valueString [ fhir:value "Exon 21" ]
  ], [
     fhir:index 2;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass" ];
     fhir:Extension.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6684-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6684-0" ];
         fhir:Coding.display [ fhir:value "somatic" ]
       ]
     ]
  ];
  fhir:Observation.status [ fhir:value "final"];
  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 "The material on this page will be removed in a future release. This content is deprecated and SHOULD NOT be used. Implementers are instead directed to the ([Genomics Reporting Implementation Guide](http://hl7.org/fhir/uv/genomics-reporting/index.html)) for guidance. 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/example>;
     fhir:Reference.reference [ fhir:value "Patient/example" ];
     fhir:Reference.display [ fhir:value "Molecular Lab Patient ID: HOSP-23456" ]
  ];
  fhir:Observation.effectiveDateTime [ fhir:value "2013-04-03T15:30:10+01:00"^^xsd:dateTime];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:link <http://hl7.org/fhir/Practitioner/example>;
     fhir:Reference.reference [ fhir:value "Practitioner/example" ];
     fhir:Reference.display [ fhir:value "Molecular Diagnostics Laboratory" ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a sct:10828004;
       fhir:Coding.system [ fhir:value "http://snomed.info/sct" ];
       fhir:Coding.code [ fhir:value "10828004" ];
       fhir:Coding.display [ fhir:value "Positive" ]
     ]
  ];
  fhir:Observation.device [
     fhir:link <http://hl7.org/fhir/Device/example>;
     fhir:Reference.reference [ fhir:value "Device/example" ]
  ] .

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

<http://hl7.org/fhir/Practitioner/example> a fhir:Practitioner .

<http://hl7.org/fhir/Device/example> a fhir:Device .

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

<http://hl7.org/fhir/Observation/example-genetics-1.ttl> a owl:Ontology;
  owl:imports fhir:fhir.ttl;
  owl:versionIRI <http://build.fhir.org/Observation/example-genetics-1.ttl> .

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