The implementation of codification systems of Rare Diseases (RD) represents one of the biggest challenges in the field where action is undoubtedly more needed. Codification is crucial for estimating the global number of persons living with RD and their access to healthcare services and for tracing RD patients’ pathways across healthcare systems.
ORPHANET has been working on the tackle of this issue since 1997 and this efforts are still ongoing. At this stage, each clinical entity in the Orphanet nomenclature is being assigned a unique and stable identifier, the Orphanumber. The subset of ORPHA numbers that is applicable for coding patients is called the ORPHA codes.
The Commission Expert Group on Rare Diseases (CEGRD) adopted a recommendation in November 2014 entitled Recommendation on Ways to Improve Codification for Rare Diseases in Health Information Systems in which it is recommended to include a codification policy for rare diseases in national plans, and to consider to introduce the ORPHA codes in Member States health information systems, which implementation has been supported by an specific RD-Action work package . In order to support this implementation, RD-Action set up a specific workpackage.
As a fruit of this effort, a guideline document called Standard procedure and guide for the coding with Orphacodes has just been produced. It contains 6 recommendations adapted to different and well defined coding situations.
This document is a major step towards the practical implementation of RD codification, necessary for interoperability between countries but also between different sources of data, coming both from care and research. Hopefully Member States, and countries beyond Europe can find here appropriate answers to questions posed by the challenge of RD coding, and find inspiration for real-life implementation.