The Orphanet nomenclature is a multilingual, standardised, controlled medical terminology specific to rare diseases, that includes all clinical entities registered in the Orphanet knowledge base. Each clinical entity (disorder, group of disorders, or subtype of a disorder) is associated with a unique numerical identifier named ORPHAcode, as well as a preferred term, synonyms, and a definition.
The Orphanet nomenclature is organised in a multi-hierarchical and polyparental classification system, structured around the major medical specialties, according to diagnostic and therapeutic relevance. The Orphanet classification is organised in three hierarchical levels: Group of disorders, Disorder, and Subtype of a disorder, that determine the level of precision of each diagnosis included in the nomenclature.
The Orphanet Nomenclature of rare diseases is produced according to standard procedures.
This tool is dedicated to browsing the Orphanet classifications. It allows users to search for clinical entities by ORPHAcode.
The browsing tool is updated yearly in July according to the content of the most recent Orphanet nomenclature pack.
You will be able to visualise SNOMED-CT codes in this application, but due to licencing restrictions they will not appear in your data export.
For further information, you can consult the user guide.
If you have any questions about tools, you can read ” Guidance for ORPHAcoding implementation and exploitation” or post an issue on our Github Tracker issue.
Co-Funded by the European Union. Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the European Union or HADEA. Neither the European Union nor the granting authority can be held responsible for them
