SNOMED CT to Orphanet map released to improve representation of rare diseases
Orphanet (Inserm) and SNOMED CT have released at SNOMED CT to Orphanet map, with the objective of improving the visibility of rare diseases in terminologies and promoting interoperability among different codification and terminology systems.
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, initiated in 2015. 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.
One of the key use cases for this standardised map is to meet European Union (EU) requirements to implement ORPHA codes in health systems for Rare Diseases epidemiology and research, including use in registries, enabling linkage from SNOMED CT enabled Electronic Health Records (EHRs), and supporting cross-border interoperability with International Classification of Disease (ICD)-based coding systems.
The two organisations plan to publish the SNOMED CT to Orphanet map annually in the October timeframe. The map will be extended over the coming years to include further Rare Diseases included in the Orphanet nomenclature.
Access to the human readable map and accompanying release notes is made available from Orphanet via the Orphadata platform: http://www.orphadata.org/, and the RF2 version from SNOMED International for Members and Affiliates from the organisation’s Member Licensing and Distribution Service.
