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.
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.
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.
Read the news release here.
