minimal Common Oncology Data Elements (mCODE) Implementation Guide
4.0.0-ballot - STU4 Ballot 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-ballot: STU4 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 3.0.0. For a full list of available versions, see the Directory of published versions

Example Observation: gx-genomic-variant-somatic-polrmt

Generated Narrative: Observation

Resource Observation "gx-genomic-variant-somatic-polrmt"

Profile: Genomic Variant Profile

status: final

category: Laboratory (Observation Category Codes#laboratory)

code: Genetic var assess (LOINC#69548-6)

subject: Patient/gx-cancer-patient-adam-anyperson " ANYPERSON"

effective: 2019-04-01

performer: Practitioner/us-core-practitioner-owen-oncologist " ONCOLOGIST"

value: Present (LOINC#LA9633-4)

method: Sequencing (LOINC#LA26398-0)

component

code: Gene studied ID (LOINC#48018-6)

value: POLRMT (gene#5442)

component

code: Genomic source class (LOINC#48002-0)

value: Somatic (LOINC#LA6684-0)

component

code: Molecular Consequence (To Be Determined Codes#molecular-consequence)

value: missense_variant (#SO:0001583)

component

code: Transcript ref sequence ID (LOINC#51958-7)

value: NM_005035 (Gene Reference Sequence Collection#NM_004656)

component

code: DNA change (LOINC#48004-6)

value: NM_005035.4:c.598G>A (Human Genome Variation Society nomenclature#NM_005035.4:c.598G>A)

component

code: Amino acid change (LOINC#48005-3)

value: NP_005026.3:p.(Gly200Arg) (Human Genome Variation Society nomenclature#NP_005026.3:p.(Gly200Arg))

component

code: Sample VAF (LOINC#81258-6)

value: 75.6 % (Details: UCUM code % = '%')

component

code: Human ref seq assembly+build (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)