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.