North West Genomic Medicine Service Alliance
0.0.7 - ci-build United Kingdom flag

North West Genomic Medicine Service Alliance, published by NHS North West GMSA. This guide is not an authorized publication; it is the continuous build for version 0.0.7 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/R4/ and changes regularly. See the Directory of published versions

Example Observation: Genomic Report Ovarian Carcinoma Diagnostic Implication Example

identifier: Uniform Resource Identifier (URI)/urn:uuid:b4a59a58-73b8-4f47-a706-7dd0725ead83

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Octavia CHISLETT

derivedFrom: BRCA1

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Anaemia in ovarian carcinoma