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In February 2020, the Institut national de la santé et de la recherche médicale (Inserm) and SNOMED International renewed their relationship governing the rare disease content included in SNOMED CT. With an objective to improve the visibility of rare diseases in terminologies and promote interoperability among different codification and terminology systems, both organizations are pleased to announce the production release of the SNOMED CT (RF2) to Orphanet (human readable) map.

The SNOMED CT to Orphanet Map Release is the product of a joint project carried out under the renewed 2020 Inserm and SNOMED International collaboration agreement. Based on an agreed priority set, new concepts for rare diseases as defined in Orphanet (clinically defined entities occurring in less than 1 in 2,000 inhabitants) have been added to SNOMED CT, and a map created from SNOMED CT to Orphanet.


Read the full release and contact info@snomed.org with any inquiries.

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