The under-representation of rare diseases (RD) in coding systems makes tracing RD patients’ pathways within healthcare systems a difficult task. This issue is crucial as it affects the possibility of estimating the global number of persons living with RD and their access to healthcare services.
In order to tackle this issue, the Orphanet has classified rare diseases since 1997, using clinical picture as a reference. In this ongoing effort, each clinical entity in the Orphanet nomenclature is assigned a unique and stable identifier, the ORPHA number.
In November 2014, the Commission Expert Group on Rare Diseases (CEGRD) adopted a recommendation entitled Recommendations 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 numbers in Member States’ health information systems. In order to support this implementation, RD-Action set up a specific work package, led by Dr Stefanie Weber at the DIMDI (Germany) and with the participation of the French data bank for rare diseases (BNDMR) and the RD registry of Veneto Region. A large panel of participants and external experts on medical statistics contribute to this work.
A guideline document called Standard procedure and guide for the coding with Orphacodes has just been produced, which contains 6 recommendations adapted to different and well-defined coding situations.
This document is a major step towards practical implementation of RD codification, necessary for interoperability between countries but also between different sources of data.
Orphanews June 6, 2017