Orphanet terminologies mapping service (Available only in english)

Orphanet has developed and maintains the Orphanet nomenclature of rare diseases, a multilingual, standardised, controlled medical terminology specific to rare diseases.

Each clinical entity is associated with a unique numerical identifier named ORPHAcode, as well as a preferred term, synonyms, classification level, typology, definition and
aligned with ICD-10, ICD-11, OMIM, UMLS, MeSH, MedDRA and GARD terminologies when relevant.

This tool allows users to search for rare clinical entity and find its references in the associated terminologies.

Three search options are possible:

  • Simple search. In the search bar, enter the ORPHAcode of the entity sought
  • Advanced search. Search by one or several fields: by label (preferred term or synonym fields), by terms (definition field). You can refine your query by selecting a terminology
    using the drop-down menu and enter a reference in the dedicated field. An additional option can be combined to search by level of mapping relation
  • Multiple queries from a search file. This section allows you to retrieve a set of results from an input file in a format suitable for the tool

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The information provided is based on published scientific articles.

Information in Orphanet is updated on a regular basis. It is possible that new discoveries are made in between updates and do not yet appear in the disease profile. The date of the last update is indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.

Information in Orphanet is not intended to replace professional health care. Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.