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