Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Example Observation: AnnotationExample

Generated Narrative

Resource "AnnotationExample"

Profile: Diagnostic Implication

status: final

category: Laboratory (Observation Category Codes#laboratory)

code: Diagnostic Implication (To Be Determined Codes#diagnostic-implication)

derivedFrom: Observation/VariantExample2

component

code: Genetic variation clinical significance [Imp] (LOINC#53037-8)

value: Pathogenic (LOINC#LA6668-3)

component

code: Associated phenotype (LOINC#81259-4)

value: Familial hypercholesterolemia (disorder) (SNOMED CT#398036000)