Orphanet nomenclature files for coding

UPDATED ANNUALLY

The Orphanet nomenclature is used to code the diagnosis of a rare disease with a unique and time-stable identifier, the ORPHAcode, in order to facilitate data collection, research and analysis. These files provide the computable information necessary to achieve the implementation of ORPHAcodes in Health Information Systems, and ensure easier and accurate coding. Orphanet provides a set of files, including:

  • Orphanet nomenclature file ( XML Schema Definitions and JPEG representations for this file).
  • Orphanet to ICD-10 mapping file ( XML Schema Definitions and JPEG representations for this file).
  • a directory containing the Orphanet classifications files by medical specialities ( XML Schema Definitions and JPEG representations for these files).
  • Linearisation file attributing one preferential medical specialty to every clinical entity ( XML Schema Definitions and JPEG representations for this file).
  • Master file which is the minimal set of ORPHAcodes, aligned with ICD-10 codes, that should be used for data sharing and statistical purposes at EU-level.
  • ORPHAnomenclature differential file which provides the key changes made to the nomenclature compared to the previous version.
  • Description of the Orphanet nomenclature file for coding which describes in details the xml files enclosed in the Orphanet nomenclature pack for coding.
These files are updated once a year, in 9 different languages: Czech, Dutch, English, French, German, Italian, Polish, Portuguese and Spanish.
Excel and PDF files are available in English and are common to all Orphanet nomenclature packs.

ORPHA Nomenclature Pack (JULY 2021)
Powered by

Language Files Size
Detailed description of the Orphanet nomenclature files for coding
In order to visualise previous versions one can check history at the RD-CODE Github 





SNOMED CT-Orphanet nomenclature mapping

An Alpha-release of SNOMED CT-Orphanet nomenclature mapping has been produced. The Alpha release of the SNOMED CT to Orphanet Nomenclature of Rare Diseases Map is the product of a joint project carried out under a collaboration agreement between the Institut national de la santé et de la recherche médicale (INSERM) and SNOMED International. Based on an agreed priority set , new concepts for rare diseases - as defined in Orphanet - have been added to SNOMED CT and a map from SNOMED CT to the Orphanet Nomenclature of Rare Diseases has been created. Access to the human readable mapping is made available below in the table, and from SNOMED International for Members and Affiliates from the organisation's Member Licencing and Distribution Service. Based on community feedback (welcome up to December 2020), the production release of the SNOMED CT to Orphanet map is slated for release in September 21, 2020. Users of the map must comply with licencing arrangements for both SNOMED CT and Orphanet.
This ALPHA release package is distributed for evaluation purposes only.
It must not be used in clinical information systems or in clinical settings, or distributed to Affiliate Licensees or any third parties.

Feedback should be sent to contact.orphanet@inserm.fr






Previous Orphanet nomenclature files for coding


ORPHA Nomenclature Pack (JULY 2020)
Powered by

Language Files Size


Detailed description of the 2020 Orphanet nomenclature files for coding
In order to visualise previous versions one can check history at the RD-CODE Github