GenomeX Data Exchange FHIR IG
0.2.0 - draft

GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions

Example DiagnosticReport: PrenatalGenomicReportPatientFemale

Generated Narrative: DiagnosticReport PrenatalGenomicReportPatientFemale

Genetic analysis report (Genetics)

SubjectJenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))
When For2024-06-26
Performers Organization Generic Laboratories, Inc. Practitioner PractitionerJane Smith

Report Details

CodeValueFlagsNote
Genetic variant assessmentAbsentFinal
Genetic variant assessmentAbsentFinal
Genetic variant assessmentPresentFinal
Genetic variant assessmentPresentFinal
Genetic variant assessmentAbsentFinal
Genetic variant assessmentPresentFinal
Genetic variant assessmentPresentFinal
Diagnostic ImplicationFinal
Diagnostic ImplicationFinal
Diagnostic ImplicationFinalRisk not calculated for HFE-associated hereditary hemochromatosis
Diagnostic ImplicationFinal
Diagnostic ImplicationFinalRisk not calculated for fragile X syndrome

Subject's offspring are at increased risk for inheriting the following genetic diseases: HFE-associated hereditary hemochromatosis, and fragile X syndrome

Coded Conclusions:

  • Positive