In February 2020, the Institut national de la santé et de la recherche médicale (Inserm) and SNOMED International took steps to renew their relationship governing the rare disease content included in SNOMED CT. Orphanet, the Inserm unit dedicated to knowledge on rare diseases, maintains the Orphanet nomenclature of rare diseases (ORPHA codes) and provides a multilingual database of information related to rare diseases and orphan drugs.
A relationship initially forged in 2015, the objective of the agreement is to improve the visibility of rare diseases in terminologies and promote interoperability among different codification and terminology systems, such as SNOMED CT for the benefit of their shared users globally.
The focus of the collaborative work was to incorporate an initial set of Orphanet into SNOMED CT and create a map between SNOMED CT and the corresponding Orphanet content. This facilitates the movement of rare disease information from EHRs to research and other uses of Orphanet data in a consistent and standardized way.
The organizations worked together to initially align a priority set (3500) of Orphanet Rare Diseases in SNOMED CT and in October 2021 produced a map between SNOMED CT and Orphanet for implementation. Work has continued to complete the alignment of all Rare Disease content in Orphanet with SNOMED CT and additional maps have been included in the 2022 map release (based on Member requirements) and the work will be completed for the 2023 release of the map, after which both organisations are committed to maintenance and updating annually.
Content added to SNOMED CT using definitions agreed by Orphanet's rare disease experts as part of developing Orphanet.
This work is a key component of the SNOMED International Genomics strategy.