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: PrenatalVariantGlycogenStorageDiseaseTypePatientFemale

Generated Narrative: Observation PrenatalVariantGlycogenStorageDiseaseTypePatientFemale

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

Information Source: #JVN7S7CW0og8nwN0

Profile: Variant

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

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

effective: 2024-06-26

performer: Practitioner PractitionerJane Smith

value: Absent

method: Sequencing

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method

value: Chromosome 1

component

code: Gene studied [ID]

value: AGL