ORPHAcodes Dataviz

Orphanet Nomenclature Pack (JULY 2024)

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.
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 searched clinical entity.

The Dataviz is generated from the ORPHAcodes API and updated yearly in July according to the content of the most recent Orphanet Nomenclature Pack. Find out more info about the tool here.

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.

Orphanet first developed this tool in the frame of the RD-CODE project, co-funded by the European Union's Third Health Program.