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: PrenatalDiagImpFragileXSyndromePatientFemale

Generated Narrative: Observation PrenatalDiagImpFragileXSyndromePatientFemale

version: 1; Last updated: 2024-09-25 00:02:13+0000;

Information Source: #mzuK1EHcvMPipAda

Profile: Diagnostic Implication

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))

effective: 2024-06-26

performer: Practitioner PractitionerJane Smith

note: Risk not calculated for fragile X syndrome

derivedFrom:

component

code: Associated phenotype

value: Genetic disorder carrier (finding)

component

code: Associated phenotype

value: Fragile X syndrome

component

code: Condition Inheritance

value: X-linked inheritance (recessive)