Registry for undiagnosed patients could help timely diagnosis of patients with rare diseases

A registry for undiagnosed patients to help aid in the timely diagnosis of rare diseases is possible with the use of open-source software that utilizes data focused on symptoms and clinical findings, according to a study. The implementation of such a registry opens the door for big data to guide diagnostic decision-support tools.

Utilizing the open-source software Open-Source Registry System for Rare Diseases (OSSE), researchers built a registry for undiagnosed patients based on recommendations by the European Rare Disease Registries Platform. Encoded data on symptoms, clinical findings, and other diagnoses were also included.

When generic codes for a defined symptom, 99% could be encoded by the medical ontology SNOMED CT.

Reference
Berger A, Rustemeier AK, Göbel J, et al. How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system. Orphanet J Rare Dis. 2021;16(1):198. doi: 10.1186/s13023-021-01831-3. PMID: 33933089; PMCID: PMC8088651.