Workpackage 5- Enhancements

Workpackage 5- Enhancements

The objective of this workpackage is to develop additional necessary rules and guidelines for rare diseases codification using ORPHAcodes across MS, to those already delivered within the RD-ACTION project. The workpackage is led by Veneto Region and participants are DIMDI/BFARM and APHP.

In particular it aims to:

  1. Exploring the context of the adoption of ORPHAcodes in implementing partners’ countries and obtaining feedback from implementing countries regarding implementation of ORPHAcodes for coding purposes is an asset for developing effective guidelines. Refinement and update of the already existing resources (guidance documents for implementation and exploitation) based on the feedback from implementing countries will be delivered.
  2. To tackle the issue of coding undiagnosed patients’

Available results:

Guidelines documents below and videos : Introduction to guidelines for ORPHAcoding video and Detailed Presentation of Guidelines for ORPHAcoding (coming soon) & guidelines for coding undiagnosed patients video)

  • The document Standard Procedure and guidelines for coding with ORPHAcodes has been updated in December 2021.
  • The document « Specification and implementation manual of the Master file for statistical reporting with ORPHAcodes » has been updated in December 2021 together with the July 2021 release of the Master-file.
  • 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 in December 2020, an updated version of this document has been released on the 20/12/ 2021 and it is available here. Those 3 years working together on the best way to give visibility to undiagnosed rare disease patients in health information systems were as interesting as fruitful, and led to the creation of a new ORPHAcode (ORPHA:616874 Rare disorder without a determined diagnosis after full investigation). This code is already visible on the Orphanet website and is distributed in the Nomenclature Pack since July 2022.


  • Implementing countries ORPHAcodes adoption Report available! This document contains country-specific insights on lessons learned, challenges and potential solutions emerging from different ORPHAcodes implementation experiences carried out in the framework of the RD-CODE project
  • 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 . It is organized into 4 parts describing the coding starting situation of three RD-CODE participant countries (Czech Republic, Malta and Spain) and of Austria (RD-CODE observer). For each country, an overview of the following themes is provided: national RD policy framework, coding framework, RD registration, Centres of Expertise/ERNs, undiagnosed RD patients.Contents are based on the answers provided by country respondents to the on-line survey, which constituted Mls 5.1. Additional material consulted to prepare the Report is listed in the Bibliography section.

WP Leader: Regione Veneto

Participants: APHP; DIMDI

European projects can be divided into “work packages” (WP). A work package can be thought of as a sub-project, which, when combined with other work packages, form the completed project.