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
<Observation xmlns="http://hl7.org/fhir"> <id value="mCODEGeneticVariantTestedExample01"/> <meta> <profile value="http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-GeneticVariantTested"/> </meta> <text> <status value="generated"/> <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> </text> <extension url="http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantTested-extension"> <extension url="http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantHGVSName-extension"> <valueString value="NM_000455.4:c.921-1G>C"/> </extension> <extension url="http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantIdentifier-extension"> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/"/> <code value="HGNC:11389"/> <display value="STK11"/> </coding> </valueCodeableConcept> </extension> <extension url="http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-VariantDescription-extension"> <valueString value="NM_000455.4:c.921-1G>C"/> </extension> </extension> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> <display value="Laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="41103-3"/> <display value="Gene XXX mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal"/> </coding> </code> <subject> <reference value="Patient/mCODEPatientExample01"/> <display value="John B. Anyperson"/> </subject> <effectiveDateTime value="2019-04-01"/> <valueCodeableConcept> <coding> <system value="http://snomed.info/sct"/> <code value="10828004"/> <display value="Positive (qualifier value)"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://ncit.nci.nih.gov"/> <code value="C101293"/> <display value="Next Generation Sequencing"/> </coding> </method> </Observation>