Preprint: The Orphanet Nomenclature and Classification of rare diseases: a standard terminology for improved patient recognition and data interoperability

WHY IT MATTERS

Standardized rare disease terminology means your diagnosis is more likely to be recognized consistently across different hospitals and countries, improving your chances of being included in research studies and getting accurate care.

Researchers created a standard naming and classification system for rare diseases to help doctors and scientists share information more easily across different countries. Right now, rare diseases aren't well organized in medical databases, which makes it hard to collect data and help patients. This new system aims to fix that problem so patients can be recognized and tracked better worldwide.

The Orphanet Nomenclature and Classification of rare diseases: a standard terminology for improved patient recognition and data interoperability Authors: Lucano, C. et al. Server: medRxiv Category: health informatics Abstract: BackgroundAlthough individually uncommon, rare diseases (RD) collectively affect an estimated 329-624 million people worldwide There are over 6,500 known RD, 85% of which affect fewer than 1 person per million. As a result, the critical amount of data necessary to improve knowledge, care, and treatment can only be achieved through cumulative data collection across different countries in a standardized manner. However, RD are under-represented in medical terminologies and classification systems, hindering data sharing, interoperability, and public health monitoring. ObjectiveThe aim of this pa