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:
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.
|English||ORPHA-SNOMEDCT-Mapping_File-Jan2020_ALPHA.xlsx (ALPHA release)||325 KB|