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 www.orphadata.org
, 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.
For more information, visit www.snomed.org/our-partners
Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems.
Orphanet was established in France by the INSERM (French National Institute for Health and Medical Research) in 1997.This initiative became a European endeavour from 2000, supported by grants from the European Commission: Orphanet has gradually grown to a Consortium of 40 countries, within Europe and across the globe.
Orphanet makes available its datasets for the research community via the platform www.orphadata.org
, which is recognised as an ELIXIR Core Data Resource, and IRDiRC Recognised Resource.
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About SNOMED International
SNOMED International is a not-for-profit organization that owns and develops SNOMED CT, the world’s most comprehensive healthcare terminology product. We play an essential role in improving the health of humankind by determining standards for a codified language that represents groups of clinical terms. This enables healthcare information to be exchanged globally for the benefit of patients and other stakeholders. We are committed to the rigorous evolution of our products and services, to deliver continuous innovation for the global healthcare community.
SNOMED International is the trading name of the International Health Terminology Standards Development Organisation.
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