Updated document « Specification and implementation manual of the Master file for statistical reporting with ORPHAcodes » available

The document « Specification and implementation manual of the Master file for statistical reporting with ORPHAcodes » has been updated and is available here, together with the new release of the Master-file.

Orphanet data Visualisation tool available!

Web-based applications development by Orphanet was foreseen during this project to facilitate the informatic access to nomenclature data and allow flexible implementation into the various IT systems in use in the different countries and/or settings. An API  , was released as a beta version in December 2019 (API for visualisation of Orphanet Nomenclature Deliverable…
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Existing experiences and Guidelines about the coding of undiagnosed rare diseases patients available

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 is available here since the end of December 2020

First RD-CODE multistakeholders workshop held in Prague, 22-23 June

The first RD-CODE multistakeholders workshop was held in Prague on the 22-23 June 2020. It was an « hybrid event », with particpants attending from Czech Republic meeting « de visu » at the Prague Congress Centre and participants from other countries attending remotely. The objectives of this workshop were multiple such as learning about the RD-CODE project and…
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Orphanet API available online since July 2020 This API allows for the identification of : – the correspondence between ORPHAcodes (aggregation level and parent-of-preference for every ORPHAcode within the hierarchical ORPHA nomenclature). but also preferred terms; synonims; definition; typology; Orphanet IRL; Status; target ORPHAcod eif inactive; Classification level; Classification; ICD10 and OMIM.

Coders training organised in Czech republic

The first course for easier implementation of ORPHAcodes for coders took place in Motol hospital on 19 February. Course was attended by 17 participants including doctors, coders and hospital representatives.  Other courses had to be postponed due to the disease COVID-19.  All powerpoint presentations and detailed manual for coders for entering rare disease cases into…
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RD-CODE project mid-term evaluation report available

Achievements leaflet available


Background Report on the “coding environment” of implementing countries available

The Background Report on the “coding environment” of implementing countries has been prepared by the WP5 participants, lead by Veneto region, and with the contribution of WP4 participants. It was released in July 2019 an dit is available here. It is organized into 4 parts describing the coding starting situation of three RD-CODE participant countries…
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Orphanet Nomenclature pack available online

The Orphanet nomenclature is used to code the diagnosis of a rare disease with a unique and time-stable identifier, the ORPHAnumber (also named ORPHAcode) in order to facilitate data collection, research and analysis. These files are available here: They provide the computable information necessary to achieve the implementation of ORPHAnumbers in Health Information Systems,…
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