HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1
1.0.0 - STU1

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

mCODECancerGeneticVariantExample01

Format(s):

Narrative view

Generated Narrative with Details

id: mCODECancerGeneticVariantExample01

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)

subject: Generated Summary: id: mCODEPatientExample01; Medical record number = m123 (USUAL); John B. Anyperson ; gender: male; birthDate: 1951-01-20

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:11389 (Details : {http://www.genenames.org/geneId code 'HGNC:11389' = 'HGNC:11389)

component

code: Discrete genetic variant (Details : {LOINC code '81252-9' = 'Discrete genetic variant)

value: 619728 (Details : {http://www.ncbi.nlm.nih.gov/clinvar code '619728' = '619728)

component

code: Genomic DNA change (gHGVS) (Details : {LOINC code '81290-9' = 'Genomic DNA change (gHGVS))

value: NC_000019.8:g.1171707G>A (Details : {http://varnomen.hgvs.org code 'NC_000019.8:g.1171707G>A' = 'NC_000019.8:g.1171707G>A)

component

code: Genomic source class [Type] (Details : {LOINC code '48002-0' = 'Genomic source class [Type])

value: Somatic (Details : {LOINC code 'LA6684-0' = 'Somatic)