NHS North West Genomics
0.0.8 - ci-build United Kingdom flag

NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions

Example Observation: DiagnosticImplication - Lynch Syndrome

identifier: 6beb613f-d303-42af-b025-86e8e0872061

status: Final

category: Genetics, Laboratory

code: Diagnostic Implication

subject: Paul LIVERPOOL

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

performer: PractitionerRole

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Inherited MMR deficiency (Lynch syndrome)