Lutter contre l'invisibilité des maladies rares grâce à la nomenclature Orphanet

On February 27, 2025, Annabelle Calomme (Orphanet Belgium, Sciensano) gave a presentation entitled “Fighting against the invisibility of rare diseases thanks to the Orphanet nomenclature” to approximately 80 physicians and healthcare professionals from the Cliniques Universitaires Saint-Luc (CUSL), one of the eight Belgian Rare Disease Functions. This presentation was given during the "Midis des Maladies Rares" (lunchtime conferences on rare diseases) organised each year by the CUSL Rare Diseases Institute as part of the activities organised for Rare Disease Day. 

Her intervention focused mainly on the main challenges related to rare diseases, in particular diagnostic wandering, as well as the importance of making these diseases more visible in the hospital environment, through the use of ORPHAcodes. She presented the Rare Disease Knowledge (RDK™) tool co-developed by Orphanet and Tekkare, which generated a lot of interest among the participants.