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 and changes regularly. See the Directory of published versions

Example Observation: HaplotypeSet-Clinical-Trial-Example-1of2

Generated Narrative: Observation

ResourceObservation "HaplotypeSet-Clinical-Trial-Example-1of2"

Profile: Haplotype

status: final

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

code: Haplotype name (LOINC#84414-2)

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2019-04-01

performer: Organization/ExampleOrg "some lab"

value: APOE1 (ClinVar Variant ID#441262)

specimen: Specimen/GenomicSpecimenExample02


*Gene studied [ID] (LOINC#48018-6)APOE (HUGO Gene Nomenclature Committee Genes#HGNC:613)