Visibility to undiagnosed patients

To tackle the issue of coding undiagnosed patients’ a collection of existing experiences of coding of undiagnosed or suspected RD patients has been produced, a guidelines proposal has been issued as well as a consensus document on codification of suspected/undiagnosed rare diseases in December 2020, an updated version of this document has been released on the 20/12/ 2021 and it is available here. Those 3 years working together on the best way to give visibility to undiagnosed rare disease patients in health information systems were as interesting as fruitful, and led to the creation of a new ORPHAcode (ORPHA:616874 Rare disorder without a determined diagnosis after full investigation). This code is already visible on the Orphanet website and will be distributed in the Nomenclature Pack of July 2022. We sincerely hope that the recommendations we produced thanks to your valuable feedbacks will be useful for the RD community.