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
{ "resourceType" : "Observation", "id" : "mCODEGeneticVariantTestedExample01", "meta" : { "profile" : [ "http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-GeneticVariantTested" ] }, "text" : { "status" : "generated", "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>*** mCODE Example: Genetic Mutation Test Result ***</b></p><p><b>Name</b>: John B. Anyperson </p><p><b>MRN</b>: m123 </p><p><b>Observation date</b>: 04/01/19 </p><p><b>Gene studied [ID]</b>: STK11</p><p><b>Gene variant Description</b>: NM_000455.4(STK11):c.921-1G>C </p><p><b>Gene variant presence</b>: DETECTED</p></div>" }, "extension" : [ { "extension" : [ { "url" : "http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantHGVSName-extension", "valueString" : "NM_000455.4:c.921-1G>C" }, { "url" : "http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantIdentifier-extension", "valueCodeableConcept" : { "coding" : [ { "system" : "http://www.genenames.org/", "code" : "HGNC:11389", "display" : "STK11" } ] } }, { "url" : "http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantDescription-extension", "valueString" : "NM_000455.4:c.921-1G>C" } ], "url" : "http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantTested-extension" } ], "status" : "final", "category" : [ { "coding" : [ { "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory", "display" : "Laboratory" } ] } ], "code" : { "coding" : [ { "system" : "http://loinc.org", "code" : "41103-3", "display" : "Gene XXX mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal" } ] }, "subject" : { "reference" : "Patient/mCODEPatientExample01", "display" : "John B. Anyperson" }, "effectiveDateTime" : "2019-04-01", "valueCodeableConcept" : { "coding" : [ { "system" : "http://snomed.info/sct", "code" : "10828004", "display" : "Positive (qualifier value)" } ] }, "method" : { "coding" : [ { "system" : "http://ncit.nci.nih.gov", "code" : "C101293", "display" : "Next Generation Sequencing" } ] } }