On 1st April ORPHANET DATA FOR RARE DISEASES 2 project was launched. Following a pilot phase in 2022, its goal is to contribute to meet the ambitions set by rare 2030 concerning data. Despite the fact that the Orphanet nomenclature already exists and is freely available in computable formats, the real-life implementation in health information systems is challenging due to the heterogeneity of coding systems and practices, and tools. The experience from the RD-CODE project , supporting diverse implementation models in four MS, taught us that local support in local language for coders and technical teams is necessary to achieve proper implementation in compliance with good practice guidelines for coding and to therefore increase data quality and comparability. To address those needs, it is important to maintain the Orphanet nomenclature of rare diseases, and to improve it building on the well organised and structured rare disease expertise laying in ERNs, to increase its interoperability with other terminologiesin use in different countries and in registries, and to contribute to the adoption and implementation,starting by the hospitals involved in ERNs by setting up a Network of National Orphanet Nomenclature Hubs in 19 MS and finally facilitate evidence-based decision through exploitation of the Orphanet Knowledge base linked to the ORPHAcodes. Read more here.
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