North West Genomic Medicine Service Alliance
0.0.7 - ci-build
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
Profile: Observation Diagnostic Implication
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