This page is part of the FHIR Specification (v4.3.0: R4B - STU). 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
Orders and Observations Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Device, Encounter, Patient, Practitioner, RelatedPerson |
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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><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 "example-phenotype" </p></div><p><b>Gene</b>: CYP2C9 <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>#2623)</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. CYP2C9 gene product metabolic activity interpretation <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#79716-7)</span></p><p><b>subject</b>: <a href=\"todo.html\">Patient/727127: J*********** C***********</a></p><p><b>effective</b>: 2013-04-03T15:30:10+01:00</p><p><b>value</b>: Normal metabolizer <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA25391-6)</span></p><p><b>device</b>: <a href=\"device-example.html\">Device/example</a></p><p><b>derivedFrom</b>: <a href=\"observation-example-diplotype1.html\">Observation/example-diplotype1</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 "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. 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.effectiveDateTime [ 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.device [ fhir:link <http://hl7.org/fhir/Device/example>; fhir:Reference.reference [ fhir:value "Device/example" ] ]; 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/Device/example> a fhir:Device . <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> . # -------------------------------------------------------------------------------------
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.