Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

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

Generated Narrative: Observation

Resource Observation "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

Components

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