This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.1.0. For a full list of available versions, see the Directory of published versions
Generated Narrative: Observation
Resource Observation "gx-genomic-variant-somatic-cdkn2a-cnv"
Profile: Genomic Variant Profile
status: final
category: Laboratory (Observation Category Codes#laboratory)
code: Genetic variant assessment (LOINC#69548-6)
subject: Patient/gx-cancer-patient-adam-anyperson " ANYPERSON"
effective: 2019-04-01
value: Present (LOINC#LA9633-4)
method: Sequencing (LOINC#LA26398-0)
component
code: Gene studied [ID] (LOINC#48018-6)
value: CDKN2A (HUGO Gene Nomenclature Committee Genes#HGNC:1787; gene#1029)
component
code: Genomic source class [Type] (LOINC#48002-0)
value: Somatic (LOINC#LA6684-0)
component
code: Molecular Consequence (To Be Determined Codes#molecular-consequence)
value: copy_number_loss (#SO:0001743)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)