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
Generated Narrative: Observation
Resource Observation "Variant-Somatic-Clinical-Trial"
Profile: Variant
status: final
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic var assess (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) (SNOMED 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: Struct var HGVS name (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 (LOINC#48002-0)
value: Somatic (LOINC#LA6684-0)