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: PrenatalVariant2FragileXSyndromePatientFemale

Generated Narrative: Observation PrenatalVariant2FragileXSyndromePatientFemale

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

Information Source: #mzuK1EHcvMPipAda

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: Present

method: Sequencing

component

code: Genetic variation clinical significance [Imp]

value: FMR1 gene premutation/premutation+full mutation in Blood by Molecular genetics method

component

code: Genomic source class [Type]

value: Germline

component

Repeat Motif Order: 1

code: Repeat Expansion Motif

value: GGC

component

Repeat Motif Order: 1

code: Number of Repeat Expansions

value: 92

component

code: Allelic state

value: Heterozygous

component

code: Gene studied [ID]

value: FMR1