LADE Seminar

Abstract

Rare diseases (RDs) are numerous, heterogeneous in nature, and geographically disparate. Few are preventable or curable, most are of pediatric-onset and may result in early death. While there is no universal definition of RDs, in the EU, the definition of RDs was established in the Regulation on orphan medicinal products (1999) as conditions whose prevalence is not more than 50 per 100 000. RDs are under-represented in healthcare coding systems. Only a small fraction of RDs have codes in international medical terminology standards, making it a challenge to trace patients with RDs in health information systems at a national and international level. Orphanet has developed and maintains the Orphanet nomenclature of rare diseases, a unique and multilingual standardized system aimed at providing a specific terminology for rare diseases. Each clinical entity is assigned a unique and time-stable ORPHAcode, around which the rest of the data in the Orphanet knowledge base is structured. This clinical coding system provides a common language across healthcare and research systems for effective monitoring and reporting on rare diseases, thus improving their visibility. By providing these services, Orphanet works towards meeting three main goals: i) improve the visibility of rare diseases in the fields of healthcare and research; ii) provide high-quality information on rare diseases, ensuring equal access to knowledge for all stakeholders; iii) contribute to generating knowledge on rare diseases ultimately improving the diagnostic pathway and clinical care provided to affected patients.