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: PrenatalVariantFamilialHyperinsulinismPatientMale

Generated Narrative: Observation PrenatalVariantFamilialHyperinsulinismPatientMale

version: 1; Last updated: 2024-09-25 00:01:34+0000;

Information Source: #hrQE3dHjuHuJ5zkf

Profile: Variant

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

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

effective: 2024-07-09

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 11

component

code: Gene studied [ID]

value: ABCC8