Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Observation: PolyGenicDiagnosticImpExample

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:

  • : Variant 1
  • : Variant 2

component

code: Genetic variation clinical significance [Imp] (LOINC#53037-8)

value: Pathogenic (LOINC#LA6668-3)

component

code: Associated phenotype (LOINC#81259-4)

value: Diabetes mellitus type 2 (disorder) (SNOMED CT#44054006)