This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v1.0.0: STU 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
Format(s):
Narrative view
Generated Narrative with Details
id: mCODECancerGeneticVariantExample02
meta:
status: final
category: Laboratory (Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)
code: Genetic variant assessment (Details : {LOINC code '69548-6' = 'Genetic variant assessment)
effective: Apr 1, 2019 12:00:00 AM
value: Present (Details : {LOINC code 'LA9633-4' = 'Present)
method: Sequencing (Details : {LOINC code 'LA26398-0' = 'Sequencing)
component
code: Gene studied [ID] (Details : {LOINC code '48018-6' = 'Gene studied [ID])
value: HGNC:1100 (Details : {http://www.genenames.org/geneId code 'HGNC:1100' = 'HGNC:1100)
component
code: Genomic DNA change (gHGVS) (Details : {LOINC code '81290-9' = 'Genomic DNA change (gHGVS))
value: NG_005905.2:g.126148_126152GTAAA[1] (Details : {http://varnomen.hgvs.org code 'NG_005905.2:g.126148_126152GTAAA[1]' = 'NG_005905.2:g.126148_126152GTAAA[1])
component
code: Genomic source class [Type] (Details : {LOINC code '48002-0' = 'Genomic source class [Type])
value: Germline (Details : {LOINC code 'LA6683-2' = 'Germline)