Orphanet also makes available a SnoMED CT/Orphanet Map release and partial extraction of scientific knowledge base in re-usable format.

This product of a joint project is 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 map is made available from Orphanet below, and the RF2 version is available from SNOMED International for Members and Affiliates from Member Licensing and Distribution Service.

SNOMED CT-Orphanet Map Release (Oct 2021)

EnglishORPHA-SNOMEDCT_Mapping_File_production.xlsx24 Oct 2023275 Kb


Reference Documents And Concepts Definitions