Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, 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

component

Related Artifact for Observation component: No display for RelatedArtifact (type: citation; url: https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions)

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Cystic fibrosis

component

code: Condition Inheritance

value: Autosomal recessive inheritance