This page is part of the FHIR Specification (v1.4.0: STU 3 Ballot 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
Genetics example 1
@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 sct: <http://snomed.info/sct/> . @prefix xs: <http://www.w3.org/2001/XMLSchema#> . # - resource ------------------------------------------------------------------- <http://hl7.org/fhir//Observation/example-observation-genetics-1> a fhir:Observation; fhir:nodeRole fhir:treeRoot; fhir:Resource.id [ fhir:value "example-observation-genetics-1"]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ]; fhir:DomainResource.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariation" ]; fhir:Extension.valueString [ fhir:value "NG_007726.3:g.146252T>G" ] ]; fhir:DomainResource.extension [ fhir:index 1; 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:DomainResource.extension [ fhir:index 2; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName" ]; fhir:Extension.valueString [ fhir:value "Exon 21" ] ]; fhir:DomainResource.extension [ fhir:index 3; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass" ]; fhir:Extension.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/LOINC-48002-0-answerlist" ]; fhir:Coding.code [ fhir:value "LA6684-0" ]; fhir:Coding.display [ fhir:value "somatic" ] ] ] ]; fhir:Observation.status [ fhir:value "final"]; fhir:Observation.code [ a loinc:55233-1; 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" ] ] ]; fhir:Observation.subjectReference [ fhir:reference <http://hl7.org/fhir/Patient/example-genetics-somatic>; fhir:Reference.reference [ fhir:value "Patient/example-genetics-somatic" ]; fhir:Reference.display [ fhir:value "Molecular Lab Patient ID: HOSP-23456" ] ]; fhir:Observation.issued [ fhir:value "2013-04-03T15:30:10+01:00"^^xs:dateTime]; fhir:Observation.performerReference [ fhir:index 0; fhir:reference <http://hl7.org/fhir/Practitioner/example-genetics-somatic>; fhir:Reference.reference [ fhir:value "Practitioner/example-genetics-somatic" ]; fhir:Reference.display [ fhir:value "Molecular Diagnostics Laboratory" ] ]; fhir:Observation.valueCodeableConcept [ a sct:10828004; 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.specimen [ fhir:reference <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" ] ]. # -------------------------------------------------------------------------------------
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.