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 and definition.
Clinical entities are further aligned with ICD-10, ICD-11, and OMIM terminologies when relevant, and the alignments are qualified according to their precision.

Orphanet mapping tool allows users to search for rare clinical entity(ies) and find the corresponding references in the above mentioned terminologies.
Obtained results include the precision of the alignments, with a cardinality from ORPHAcode to the target terminology.
Results can be dowloaded as .csv or .xls.

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, and additionallyfilter by level of mapping relation
• Multiple queries from a search file. This section allows you to obtain a set of results by uploading an input file in a format suitable for the tool, as indicated in the Help button. An example of input file is also provided.

For further information please refer to the user guide.