Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Example Observation: PolyGenicDiagnosticImpExample

Generated Narrative

Resource "PolyGenicDiagnosticImpExample"

Profile: Diagnostic Implication

Genomics Risk Assessment: RiskAssessment/GenRiskDiabetesT2: Polygenic Risk Score

status: final

category: Laboratory (Observation Category Codes#laboratory)

code: Diagnostic Implication (To Be Determined Codes#diagnostic-implication)

subject: Patient/CGPatientExample01 " EVERYMAN"

performer: Organization/ExampleOrg "some lab"

derivedFrom:

  • : Variant 1
  • : Variant 2
  • : Variant 3
  • : Variant 4
  • : Variant 5
  • : Variant 6
  • : Variant 7

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)