Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
Generated Narrative: Observation
Resource Observation "PolyGenicDiagnosticImpExample"
Profile: Diagnostic Implication
Genomic Risk Assessment: RiskAssessment/GenRiskDiabetesT2: Polygenic Risk Score
status: final
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Diagnostic Implication (To Be Determined Codes#diagnostic-implication)
subject: Patient/CGPatientExample01 " EVERYMAN"
effective: 2019-04-01
performer: Organization/ExampleOrg "some lab"
derivedFrom:
component
code: Gene dis seq var interp-Imp (LOINC#53037-8)
value: Pathogenic (LOINC#LA6668-3)
component
code: Prob assoc phenotype (LOINC#81259-4)
value: Diabetes mellitus type 2 (disorder) (SNOMED CT#44054006)