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 an ORPHAcode, as well as a preferred term, synonyms, and a definition. Clinical entities are also aligned with ICD-10, ICD-11, SNOMED-CT and OMIM when relevant, and the mappings are qualified according to their precision and specificity. The Orphanet Nomenclature of rare diseases is produced according to standard procedures.
This tool allows users to search for rare diseases and to obtain a graphical representation of the relationships of the searched clinical entity with the surrounding ones, as well as a summary of the information related to the clinical entity of interest.
The Dataviz is generated from the ORPHAcodes API and updated yearly in July according to the content of the most recent Orphanet nomenclature pack.
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.
Orphanet first developed this tool in the frame of the RD-CODE project, co-funded by the European Union’s Third Health Program.
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
