Article

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

2025-08-12

Abstract excerpt

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...

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Literature Corpus work: 3636518b-728c-592f-892c-bee3c940b3e0
DOI: 10.1101/2025.08.10.25333394

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