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="mCODEGeneticVariantFoundExample01"/> <meta> <profile value="http://hl7.org/fhir/us/mcode/StructureDefinition/onco-core-GeneticVariantFound"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"> <p> <b>*** mCODE Example: Genetic Variant Assessment ***</b> </p> <p> <b>Patient identifier</b>: m123</p> <p><b>Name</b>: John B. Anyperson </p> <p> <b>Test date</b>: April 1, 2019</p> <p> <b>Genomic source class [Type]</b>: Somatic</p> <p> <b>Variant HGVS name</b>: NM_000455.4:c.921-1G>C</p> <p><b>Variant common name</b>: G242E</p> </div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="Patient/mCODEPatientExample01"/> <display value="John B. Anyperson"/> </subject> <effectiveDateTime value="2019-04-01"/> <method> <coding> <system value="http://ncit.nci.nih.gov"/> <code value="C101293"/> <display value="Next Generation Sequencing"/> </coding> </method> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class [Type]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> <text value="Somatic"/> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48003-8"/> <display value="DNA sequence variation identifier [Identifier]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/clinvar/"/> <code value="619728"/> <display value="NM_000455.4(STK11):c.725G>A (p.Gly242Glu)"/> </coding> <text value="NM_000455.4(STK11):c.725G>A (p.Gly242Glu)"/> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82154-6"/> <display value="Genomic structural variant name"/> </coding> </code> <valueString value="NM_000455.4:c.725G>A"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="47998-0"/> <display value="DNA sequence variation display name [Text] Narrative"/> </coding> </code> <valueString value="G242E"/> </component> </Observation>