ORPHAcodes Classifications Browser

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 of rare diseases is produced according to standard procedures.​

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 according to 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.

This tool is dedicated to browse the Orphanet classifications and allows 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.

For further information please refer to the user guide.

For any questions regarding these tools you can read Guidance for ORPHAcoding implementation and exploitation, or post an issue on our Orphanet's Github Tracker.

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.