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: RiskAssessment PrenatalResidualRiskAutosomalRecessiveSAoCSPatientMale
version: 1; Last updated: 2024-09-25 00:01:34+0000;
Information Source: #hrQE3dHjuHuJ5zkf
status: Final
occurrence: 2024-07-09
basis: Observation Genetic variant assessment
Outcome | Probability[x] |
Patient has a disease-causing mutation for autosomal recessive spastic ataxia of Charlevoix-Saguenay | 0.00002277238382929289 |