Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

Publication Build: This will be filled in by the publication tooling

Example Observation: AnnotationExample

Generated Narrative: Observation AnnotationExample

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))

effective: 2019-04-01

performer: Organization some lab

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Familial hypercholesterolemia (disorder)