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 "VariantExample"
Profile: Variant
status: final
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic var assess (LOINC#69548-6)
subject: Patient/HG00403 " EVERYONE"
effective: 2019-04-01
performer: Organization/ExampleOrg "some lab"
value: Present (LOINC#LA9633-4)
component
code: Genomic reference sequence [ID] (LOINC#48013-7)
value: NC_000017.11 (Gene Reference Sequence Collection#NC_000017.11)
component
code: Ref nucleotide (LOINC#69547-8)
value: ATTGAGGGAAAACACAT
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic allele start-end (LOINC#81254-5)
value: 39723965-?
component
code: Genomic coord system (LOINC#92822-6)
value: 0-based interval counting (LOINC#LA30100-4)