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 "VariantExample2"
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)
method: Sequencing (LOINC#LA26398-0)
component
code: Genomic reference sequence [ID] (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic State (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96527334-?