The cooperation of different countries in the thematic field of rare disease (RD) proved to be useful in the past.

RD-Action large geographical coverage is key to success since it promotes the transfer of European recommendations into national policies and the collection of information and concerns from Member States (MS) to the Commission Expert Group on Rare Diseases (CEGRD), thus to the European Commission.

With 34 beneficiaries and 30 collaborating partners from 40 participating countries, the European project Rare Disease Action (RD-Action) aimed at creating a consistent European way of meeting challenges in the field of RD. Besides EU-countries, other European countries like Iceland and Switzerland as well as non-European countries like Canada and Australia participated in the RD-Action and thus involved in international developments in the field of RD. One objective of the RD-Action was to support the development and sustainability of the Orphanet database. A second objective has been the contribution to solutions to ensure an appropriate codification of RD in health information systems across Europe. Besides that, the work on priority issues for people living with RD by implementing the actions defined in the EU Council Recommendation on an action in the field of RD and to ensure the sustainability of these actions as well as supporting the work of the CEGRD were further objectives.

The 3-year European Joint Action started in June 2015 and ended in July 2018. It has been co-financed by the European Commission.

Content of the project

RD-Action consisted of 6 work packages (WP). DIMDI lead the WP 5, Steering, maintaining and promoting the adoption of Orphacodes across MS. The participation of DIMDI in this European working group enabled the facilitated sharing of experience and has been fundamental for  a synergistic and consistent development on national and international levels.

With the recommendation of the European Council of 2009 on an action in the field of RD all MS should amongst others "aim to ensure that rare diseases are adequately coded and traceable in all health information systems […]". The RD-Action provided the basis for realization of this part of the council recommendation on European level.

The WP 5 has been divided into 4 different tasks. The tasks were building on each other in time and content. The following tasks were performed:

• Task 5.1. To define and set the necessary strategy and tools (i.e. coding rules) to implement the Orphacodes in the European countries.
• Task 5.2. Specifications of the required resources (i.e. Master file) for coding RD consistently across Europe.
• Task 5.3. Promoting the Orphacodes across MS by sharing coding tools and testing the master resource.
• Task 5.4. Plan for next steps needed to address long-term maintenance and sustainability of the resources and guidelines.

DIMDI has been responsible for the achievement of task 5.2. Within this task a Master file (Master file for statistical reporting with Orphacodes) has been developed. Comparable to the "Musterdatensatz", which is produced in the framework of the national project, the master file should enable an easy and standardized way to code RD across MS.

The Master file as well as the developed recommendations for coding of rare diseases are available for download on the RD-Action website, Chapter "Leaflet & Documents" (see link at "Additional information about the international EU project on the web"). Within the framework of the project RD-CODE an updated version of the master file and the document "Specification and implementation Manual for the Master file for statistical reporting with ORPHAcodes 1st update" was established and is now available:

Project file RD-Code

Disclaimer RD-Action:

This website is part of the project / joint action '677024 / RD-Action' which has received funding from the European Union’s Health Programme (2014-2020).

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