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Orphanet Data For Rare Diseases


Welcome to OD4RD

The Orphanet Data for Rare Disease project started on the first January 2022. A pilot phase of 15 month was held from January 2022 to March 2023 (OD4RD) and then the project has been renewed until the end of 2025 (OD4RD2). The project that builds on Orphanet’s specific expertise, and on its organisation as a long-lasting, well-established network, aims at fulfilling the following general objectives:

  • To contribute to the generation of standardised, interoperable data on RD diagnosis for primary and secondary use, through maintenance of the Orphanet nomenclature of RD in collaboration with ERNs, and active support for its implementation in hospitals hosting ERNs,

  • To contribute to the harmonisation of data collection amongst various settings (health records, registries) and amongst countries, through dissemination of coding good practices at the source (health records, registries, etc)

  • To support evidence-based decision-making in the frame of the European strategy around ERNs, by providing an exploitable reference corpus of data and information on RD.

Project deliveries can be accessed here: https://od4rd.eu/03-deliverables

Our ORPHAcodes helpdesk is available here as well as an FAQ: https://github.com/OD4RD/Main-Help-Desk/wiki

A booklet explaining the advantages and importance of ORPHAcoding vs other generic terminologies is available here.

Co-Funded by the European Union. Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the European Union or HADEA. Neither the European Union nor the granting authority can be held responsible for them