This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v0.9.1: STU 1 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
@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 ------------------------------------------------------------------- a fhir:Observation; fhir:nodeRole fhir:treeRoot; fhir:Resource.id [ fhir:value "mCODEGeneticVariantFoundExample01"]; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-GeneticVariantFound"; fhir:index 0; fhir:link <http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-GeneticVariantFound> ] ]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n <p>\n <b>*** mCODE Example: Genetic Variant Assessment ***</b>\n </p>\n <p>\n <b>Patient identifier</b>: m123</p>\n <p><b>Name</b>: John B. Anyperson </p>\n <p>\n <b>Test date</b>: April 1, 2019</p>\n <p>\n <b>Genomic source class [Type]</b>: Somatic</p>\n <p>\n <b>Variant HGVS name</b>: NM_000455.4:c.921-1G>C</p>\n <p><b>Variant common name</b>: G242E</p>\n </div>" ]; fhir:Observation.status [ fhir:value "final"]; fhir:Observation.category [ fhir:index 0; fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ]; fhir:Coding.code [ fhir:value "laboratory" ] ] ]; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:69548-6; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "69548-6" ]; fhir:Coding.display [ fhir:value "Genetic variant assessment" ] ] ]; fhir:Observation.subject [ fhir:Reference.reference [ fhir:value "Patient/mCODEPatientExample01" ]; fhir:Reference.display [ fhir:value "John B. Anyperson" ] ]; fhir:Observation.effectiveDateTime [ fhir:value "2019-04-01"^^xsd:date]; fhir:Observation.method [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://ncit.nci.nih.gov" ]; fhir:Coding.code [ fhir:value "C101293" ]; fhir:Coding.display [ fhir:value "Next Generation Sequencing" ] ] ]; fhir:Observation.component [ fhir:index 0; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:48002-0; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "48002-0" ]; fhir:Coding.display [ fhir:value "Genomic source class [Type]" ] ] ]; fhir:Observation.component.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:CodeableConcept.text [ fhir:value "Somatic" ] ] ], [ fhir:index 1; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:48003-8; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "48003-8" ]; fhir:Coding.display [ fhir:value "DNA sequence variation identifier [Identifier]" ] ] ]; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/clinvar/" ]; fhir:Coding.code [ fhir:value "619728" ]; fhir:Coding.display [ fhir:value "NM_000455.4(STK11):c.725G>A (p.Gly242Glu)" ] ]; fhir:CodeableConcept.text [ fhir:value "NM_000455.4(STK11):c.725G>A (p.Gly242Glu)" ] ] ], [ fhir:index 2; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:82154-6; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "82154-6" ]; fhir:Coding.display [ fhir:value "Genomic structural variant name" ] ] ]; fhir:Observation.component.valueString [ fhir:value "NM_000455.4:c.725G>A" ] ], [ fhir:index 3; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:47998-0; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "47998-0" ]; fhir:Coding.display [ fhir:value "DNA sequence variation display name [Text] Narrative" ] ] ]; fhir:Observation.component.valueString [ fhir:value "G242E" ] ]. # - ontology header ------------------------------------------------------------ a owl:Ontology; owl:imports fhir:fhir.ttl.