Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Observation: Variant-Somatic-Clinical-Trial

Generated Narrative: Observation

ResourceObservation "Variant-Somatic-Clinical-Trial"

Profile: Variant

status: final

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

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

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2019-04-01

performer: Organization/ExampleOrg "some lab"

value: Present (LOINC#LA9633-4)

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

method: Sequencing (LOINC#LA26398-0)

specimen: Specimen/GenomicSpecimenExample01

component

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

value: FGFR2 (HUGO Gene Nomenclature Committee Genes#HGNC:3689)

component

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

value: NC_000010.11:g.121498525T>G (Human Genome Variation Society nomenclature#NC_000010.11:g.121498525T>G)

component

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

value: Somatic (LOINC#LA6684-0)