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-2

some loinc code (Genetics)

SubjectJohn Doe unknown, DoB Unknown ( 04 (use: temp))
Identifier: 02

Report Details

CodeValue
Genetic variant assessment

A rare genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.

Coded Conclusions:

  • Obesity due to centrosomal protein 19 deficiency (disorder)