Phenomics Exchange for Research and Diagnostics
0.1.0 - ci-build International flag

Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

Example DiagnosticReport: Phenopackets Genomic Interpretation Example-1

some loinc code (Genetics)

SubjectJohn Doe unknown, DoB Unknown ( id: 04 (use: TEMP))

Report Details

CodeValue
Genetic variant assessment

The detected variant is Likely-Pathogenic of Pfeiffer syndrome

Coded Conclusions :

  • Acrocephalosyndactyly type V (disorder)