NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.2.5) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Example Observation: DiagnosticImplication - Cystic Fibrosis Carrier

identifier: a954a98c-f427-4968-9022-8b760de66628

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Jaime LANCASTER

effective: 2025-10-23 10:37:26+0000

performer: Result INTERPRETER at North West Genomics

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Cystic fibrosis carrier