SNOMED International and INSERM,  the French National Institute of Health and Medical Research, have renewed a collaboration agreement initially established in 2015. The focus of the agreement continues to be on ensuring that rare diseases can be identified and recorded in a standard way globally and this is supported by the inclusion of rare disorders nomenclature content from Orphanet in SNOMED CT.

Orphanet, the INSERM unit dedicated to knowledge on rare diseases, maintains the Orphanet nomenclature of rare diseases (ORPHAcodes) and provides a multilingual database of information related to rare diseases and orphan drugs. Orphanet is a network of 40 countries, committed to improving the recognition, information and knowledge to improve rare diseases patients’ lives.

The Orphanet nomenclature of rare diseases is a key resource facilitating primary and secondary use of rare disease data supporting care, research and public health. It is the only rare disease specific medical terminology, constantly evolving as knowledge evolves, with the contribution of  rare disease experts from around the world.

Orphanet operates under the joint authority of the French Ministry of Health and the National Institute of Health and Medical Research. INSERM is a public scientific and technological institute dedicated to biomedical research and human health, including rare diseases, and is involved in the entire range of activities from the laboratory to the patient's bedside and to public health. 

SNOMED CT is the most comprehensive, multilingual clinical healthcare terminology in the world. It is used in 80 countries, representing a third of the global population. SNOMED International is committed to supporting interoperability across the healthcare sector globally, facilitating terminology integration and improving safe patient care.

Effective October 2024, the agreement builds on prior collaboration agreements (2015 and 2020) intended to raise the visibility of rare diseases in terminologies and promote interoperability between organizations and countries using different coding systems. The collaboration has already delivered Orphanet rare disease content into the SNOMED CT International release and a linkage between SNOMED CT and Orphanet. 

The new collaboration agreement continues the work to maintain and update the alignment between SNOMED CT and Orphanet. In addition, both organisations are committed to supporting those requiring and using rare disease content to facilitate better patient care, precision medicine and research. Implementation is key to enable a global picture of rare diseases to provide understanding and allow improved patient management.

“The ongoing renewal of our collaboration with INSERM demonstrates that we are building on a foundation of trust and achievement that has successfully delivered SNOMED CT content and product improvement,” said SNOMED International CEO Don Sweete. “We look forward to another five years of successfully working together to achieve our mutual goals to globally improve and transform healthcare delivery for patients and clinicians in the rare diseases domain.”

Katrien Scheerlinck, Senior Expert Health Standards at the Belgium National Release Centre, said, “The integration of rare diseases concepts from Orphanet offers a significant administrative simplification in our case. What currently requires additional administrative resources can now automatically flow into our scientific registers and statistics. Academic hospitals and research centres are extremely enthusiastic about this forward-looking solution and simplification."

Theresa Barry, Clinical Terminology Architecture Lead, (Téarmaíocht Chliniciúil Ceannaire Ailtireachta), Ireland said, “Having the Orphanet codes in SNOMED made available with a mapping file is going to be transformational for the collection of data for rare diseases, allowing registries and statistics to seamlessly flow data that will benefit patients and researchers. This approach is widely acknowledged as being progressive and beneficial, to all stakeholders.”

“This renewed collaboration with SNOMED International aligns with Orphanet’s strategy of contributing to the creation of an interoperable rare disease data ecosystem. ORPHAcodes are the common language between countries and between sectors, for a better recognition of rare diseases, data production and knowledge generation, bringing health data to registries and data spaces. This cannot be achieved without the sustained collaboration with SNOMED since 2015, a collaboration of which we are proud,” said Dr Ana Rath, Orphanet Director.

Media Inquiries

Inserm, US14 - Orphanet

Charlotte Rodwell

Email: media.orphanet@inserm.fr

SNOMED International

Kelly Kuru

Email: comms@snomed.org