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ORPHAcodes Mappings Browser

ORPHA 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 database.
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 further aligned with ICD-10, ICD-11, and OMIM terminologies when relevant, and the mappings are qualified according to their precision.
This 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.

If no mapping is available or the entity is not present in the current nomenclature pack, the tool will show a pop-up message to inform the user.
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.

Due to legal restrictions please remember the SNOMED-CT codes will NOT show in your exports.
They will however be displayed correctly on the present website.

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Mapping Legend
E : Exact Mapping
BTNT : Broader terms maps to narrower term
NTBT : Narrower terms maps to broader term
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Link to CEE website

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.

Link to OD4RD website

Copyright
Orphanet is a registered trademark owned by INSERM and the French Ministry of Health

Link to the french Ministry of Health website
Link to INSERM website