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 PrenatalDiagImpAutosomalRecessiveSAoCSPatientMale
version: 1; Last updated: 2024-09-25 00:01:34+0000;
Information Source: #hrQE3dHjuHuJ5zkf
Profile: Diagnostic Implication
Genomic Risk Assessment: autosomal recessive spastic ataxia of Charlevoix-Saguenay Residual Risk
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
effective: 2024-07-09
performer: Practitioner PractitionerJane Smith
derivedFrom: Observation Genetic variant assessment
component
code: Associated phenotype
value: Normal genetic findings (finding)
component
code: Associated phenotype
value: ARSACS - autosomal recessive spastic ataxia of Charlevoix-Saguenay
component
code: Condition Inheritance
value: Autosomal recessive inheritance