This page is part of the FHIR Specification (v1.8.0: STU 3 Draft). 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/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 "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: example-genetics-1</p><p><b>status</b>: final</p><p><b>code</b>: 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>(Details : {LOINC code '55233-1' = 'Genetic analysis master panel - Blood or Tissue by Molecular genetics method', given as '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></p><p><b>subject</b>: <a>Molecular Lab Patient ID: HOSP-23456</a></p><p><b>issued</b>: 03/04/2013 3:30:10 PM</p><p><b>performer</b>: <a>Molecular Diagnostics Laboratory</a></p><p><b>value</b>: Positive <span>(Details : {SNOMED CT code '10828004' = 'Positive (qualifier value)', given as 'Positive'})</span></p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p></div>" ]; fhir:extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantName" ]; fhir:Extension.valueCodeableConcept [ fhir:CodeableConcept.text [ fhir:value "NG_007726.3:g.146252T>G" ] ] ], [ 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:index 2; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName" ]; fhir:Extension.valueString [ fhir:value "Exon 21" ] ], [ 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:concept 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; fhir:concept 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-- 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.issued [ 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; fhir:concept 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:link <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" ] ] . <http://hl7.org/fhir/Patient/example> a fhir:Patient . <http://hl7.org/fhir/Practitioner/example> a fhir:Practitioner . <http://hl7.org/fhir/Specimen/genetics-example1-somatic> a fhir:Specimen . # -------------------------------------------------------------------------------------
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.