Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

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

Example Observation: PolyGenicDiagnosticImpExample

Generated Narrative: Observation

ResourceObservation "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) (SNOWMED CT#44054006)