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: obs-idh-ex

Generated Narrative: Observation obs-idh-ex

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Alanine B. Everyone Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))

effective: 2023-06-01

performer: Organization Some lab

derivedFrom: Observation Genetic variant assessment


code: Genetic variation clinical significance [Imp]

value: Pathogenic


code: Associated phenotype

value: Cystic fibrosis


code: Condition Inheritance

value: Autosomal recessive inheritance