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 in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Example Observation: diagnosticImplication-interact-smn1-smn2

Generated Narrative: Observation diagnosticImplication-interact-smn1-smn2

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: A Newborn

effective: 2019-04-01

performer: Organization some lab

method: Computational analysis

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Level of Evidence

value: Very strong evidence pathogenic

component

code: Associated phenotype

value: Spinal muscular atrophy (SMA)