minimal Common Oncology Data Elements (mCODE) Implementation Guide
4.0.0 - STU4 United States of America flag

This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v4.0.0: STU4) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Example Observation: gx-genomic-variant-somatic-bap1-indel

Generated Narrative: Observation gx-genomic-variant-somatic-bap1-indel

status: Final

category: Laboratory

code: Genetic variant assessment

subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)

effective: 2019-04-01

performer: Practitioner Owen Oncologist

value: Present

method: Sequencing

component

code: Gene studied [ID]

value: BAP1

component

code: Transcript reference sequence [ID]

value: NM_004656.4

component

code: DNA change (c.HGVS)

value: NM_004656.4:c.1768C>T

component

code: Amino acid change (pHGVS)

value: NP_004647.1:p.(Gln590Ter)

component

code: Genomic source class [Type]

value: Somatic

component

code: Sample variant allelic frequency [NFr]

value: 57.4 % (Details: UCUM code% = '%')

component

code: Molecular Consequence

value: stop_gained

component

code: Human reference sequence assembly version

value: GRCh37