minimal Common Oncology Data Elements (mCODE) Implementation Guide
2.0.0 - STU 2

This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Example Observation: genomic-variant-germline-deletion

Generated Narrative

Resource "genomic-variant-germline-deletion"

Profile: Genomic Variant Profile

status: final

category: Laboratory (Observation Category Codes#laboratory)

code: Genetic variant assessment (LOINC#69548-6)

subject: Patient/cancer-patient-john-anyperson " ANYPERSON"

effective: 2019-04-01

value: Present (LOINC#LA9633-4)

interpretation: Positive (qualifier value) (SNOMED CT#10828004)

method: Sequencing (LOINC#LA26398-0)

component

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

value: BRCA1 (HUGO Gene Nomenclature#HGNC:1100)

component

code: Genomic DNA change (gHGVS) (LOINC#81290-9)

value: NG_005905.2:g.126148_126152del (Human Genome Variation Society nomenclature#NG_005905.2:g.126148_126152del)

component

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

value: Germline (LOINC#LA6683-2)

Notes:

Instance: genomic-variant-germline-deletion
InstanceOf: GenomicVariant
Title: "genomic-variant-germline-deletion"
Description: "mCODE Example for Genomic Variant"
Usage: #example
* status = #final
* category = http://terminology.hl7.org/CodeSystem/observation-category#laboratory
* code = http://loinc.org#69548-6
* subject = Reference(cancer-patient-john-anyperson)
* effectiveDateTime = "2019-04-01"
* valueCodeableConcept = http://loinc.org#LA9633-4 "Present"
* interpretation = http://snomed.info/sct#10828004 "Positive (qualifier value)"
* method = http://loinc.org#LA26398-0 "Sequencing"
* component[0].code = http://loinc.org#48018-6
* component[=].valueCodeableConcept = http://www.genenames.org#HGNC:1100 "BRCA1"
* component[+].code = http://loinc.org#81290-9
* component[=].valueCodeableConcept = http://varnomen.hgvs.org#NG_005905.2:g.126148_126152del "NG_005905.2:g.126148_126152del"
* component[+].code = http://loinc.org#48002-0
* component[=].valueCodeableConcept = http://loinc.org#LA6683-2 "Germline"