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 https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Observation: haplotype-hla-a-1-r4

Generated Narrative: Observation

Resource Observation "haplotype-hla-a-1-r4"

Profile: Haplotype

status: final

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

code: Haplotype name (LOINC#84414-2; LOINC#57290-9 "HLA-A [Type] by High resolution")

subject: Patient/ExamplePatient

effective: 2018-07-26

performer: : aTypingLab, Inc

value: HLA-A*03:01:01:01 (hla[3.31.0]#HLA-A*03:01:01:01)

specimen: Specimen/specimen-hla-r4

Components

-CodeValue[x]
*Gene studied [ID] (LOINC#48018-6)HLA-A (HUGO Gene Nomenclature Committee Genes#HGNC:4931)