Project Duration: 01 April 2023 – 31 December 2025
EU contribution: €1,063,153.28, funded under EU4Health Programme
Website: ORPHANET DATA FOR RARE DISEASES 2
The proposed project, following a pilot phase in 2022, wants 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.
Specific objective: To ensure support for the local implementation of ORPHAcodes in national HCPs hosting ERNs and national HCPs linked to ERNs by establishing Orphanet national nomenclature support hubs.
Task 1 Scientific Coordination of the national nomenclature hubs network
Task 2 Coordination of the National Hubs
Task 3 Developing Orphanet nomenclature National hubs annual action plans
Task 4 Promote the Orphanet nomenclature at National Level
Task 5 Organise Training sessions in national language
Task 6 Provide support and advice on ORPHAcodes implementation and use. Operation of National helpdesk.
Project Coordinator: INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE, France