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
Generated Narrative: Observation PrenatalVariantGlycogenStorageDiseaseTypePatientMale
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
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