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

2025-08-12 health informatics Title + abstract only
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Although individually uncommon, rare diseases (RD) affect an estimated 300 million people worldwide. Establishing a public health approach to RD requires counting diseases and affected patients. However, RD are under-represented in medical terminologies, with only a small fraction of RD possessing specific and unambiguous codes, and those codes not being explicitly designated as rare. To tackle the challenge of RD codification and interoperability, Orphanet has developed a nomenclature of RD th...

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