Orphanet maintains the Orphanet nomenclature of rare diseases, a unique and multilingual standardised system aimed at providing a specific terminology for rare diseases, essential in improving rare disease visibility in health and research information systems.
Each disease is attributed a unique and stable identifier, the ORPHAcode. The nomenclature is organised in a multi-hierarchical and polyparental classification, structured by medical specialty according to diagnostic and therapeutic relevance. Each clinical entity is attributed one classification level (Group of disorders, Disorder, or Subtype of disorder), and is included in as many medical specialties as necessary according to its clinical presentation.
We provide several datasets extracted from the Orphanet database that facilitate the exploitation of various rare disease -related datasets offered by Orphanet:
What is the Orphanet nomenclature of rare diseases?
Free access products description
Orphanet nomenclature and classification of rare diseases
ICD-10 coding rules for rare diseases
Naming rules for the rare disease nomenclature in English
Nomenclature production in national language
Linearisation rules for Orphanet classifications
Orphanet Standard Operating Procedures