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 Observation: PrenatalDiagImpGlycogenStorageDiseasePatientMale

Generated Narrative: Observation PrenatalDiagImpGlycogenStorageDiseasePatientMale

version: 1; Last updated: 2024-10-02 03:41:34+0000;

Information Source: #JVN7S7CW0og8nwN0

Profile: Diagnostic Implication

Genomic Risk Assessment: glycogen storage disease type III Residual Risk

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, ))

effective: 2024-06-26

performer: Practitioner PractitionerJane Smith

derivedFrom: Observation Genetic variant assessment

component

code: Associated phenotype

value: Normal genetic findings (finding)

component

code: Associated phenotype

value: Glycogen storage disease, type III

component

code: Condition Inheritance

value: Autosomal recessive inheritance