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: Pgx-geno-1002

Generated Narrative: Observation

ResourceObservation "Pgx-geno-1002"

Profile: Genotype

status: final

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

code: Genotype display name (LOINC#84413-4)

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2019-04-01

performer: Organization/ExampleOrg "some lab"

value: CYP2C9*1/*1 ()

specimen: Specimen/GenomicSpecimenExample01

derivedFrom: Observation/Pgx-var-1021

Components

-CodeValue[x]
*Gene studied [ID] (LOINC#48018-6)CYP2C9 (HUGO Gene Nomenclature Committee Genes#HGNC:2623)