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: PrenatalVariant1CNVFactorXiDeficiencyPatientMale

Generated Narrative: Observation PrenatalVariant1CNVFactorXiDeficiencyPatientMale

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

effective: 2024-06-26

performer: Practitioner PractitionerJane Smith

value: Present

method: Sequencing

component

code: Genetic variation clinical significance [Imp]

value: Likely pathogenic

component

code: Genomic source class [Type]

value: Germline

component

code: Genomic structural variant copy number

value: 0 1 (Details: UCUM code1 = '1')

component

code: Genomic reference sequence identifier

value: NM_000128.3

component

code: Gene studied [ID]

value: F11