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Inserm and SNOMED International renew their collaborative agreement guiding the represetnation of Orphanet rare disease content into SNOMED CT

May 5, 2020

London, United Kingdom, May 7, 2020 -- 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.  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. 

Inserm is the only public research organization in France entirely dedicated to human health operating under the joint authority of the French Ministry of Health and French Ministry of Research.  Inserm’s objective is to promote the health of all by advancing knowledge about life and disease, treatment innovation, and public health research.  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.

SNOMED CT is the world’s largest clinical terminology, representing a collection of more than 350,000+ clinical concepts and built upon ontological principles, particularly useful when applied in research and planning capacities.  SNOMED CT’s primary purpose is to support all healthcare professionals in their recording and sharing of detailed patient information within Electronic Health Records (EHRs) and across healthcare communities globally.

Recognizing the mutual benefit of working together, Inserm and SNOMED International maintain that through this agreement each organization's actions are complimentary in nature, avoiding duplication and placing full emphasis on interdisciplinary collaboration.  “Orphanet is committed to increasing the visibility of rare disease patients in health information systems and promoting interoperability between countries using different coding systems.  This collaboration is a great step towards this goal” shares Orphanet Director, Dr. Ana Rath.  Capitalizing on the momentum of a renewed agreement, the organizations are proceeding with the alpha release of the SNOMED CT (RF2) to Orphanet (human readable) map, to which community feedback is invited. 

Access to the human readable map is made available from Inserm from, and from SNOMED International for Members and Affiliates from the organization’s Member Licensing and Distribution Service.  Based on community feedback, the production release of the SNOMED CT to Orphanet map is slated for release in September 2021.  “The ability to represent the scope of rare disease content in SNOMED CT is essential and facilitating the link to Orphanet for research by our common users is a primary goal of the organization.  Evolving our fruitful relationship with Inserm has been a significant milestone” offers SNOMED International CEO, Don Sweete.

An agreement in effect to December 2021, both organizations remain committed to developing jointly agreed upon content maintenance processes, map scope management, exploration of different display capabilities and ongoing opportunities for collaborative projects and awareness initiatives. 


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