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Does Your Rare Disease Have a Code?

January 2015

 Codification of rare diseases

Codification means a disease is assigned an individual code so that it can be easily recognised within a health information system. A health information system is a group of IT tools, databases and procedures related to patient cases and diseases and is used to make decisions to improve treatment, research, care and healthcare management. Codification allows healthcare professionals to store, aggregate and search for disease information in a faster and easier way.

The Benefits of Codification for Rare Disease Patients

The 2009 Council Recommendation on an Action in the Field of Rare Diseases refers to improved codification of rare diseases as a priority.

Effective codification can make it easier to identify and diagnose a patient’s disease. Effective codification of each individual rare disease can help to ensure that no rare disease, and as a result no rare disease patient, is lost within a healthcare system. The data retrieved through codification can also be used in much-needed rare disease clinical research and also for national healthcare services to better perform epidemiological studies and to better plan their services.

By coding a disease it also becomes easier to identify and track it throughout the reimbursement process, therefore aiding more effective reimbursement for patients. A uniform codification of rare diseases across Europe would also help cross-border healthcare management, which can be useful to rare disease patients who may travel to another EU Member State to get expert treatment.

There are several existing codification systems. Among them the most important are:

  • The World Health Organisation’s International Classification of Diseases (ICD) came into use as a morbidity classification system in 1949. The current version (ICD10) is in use in most European countries since 1994. This system is under revision and the next version (ICD11) is expected to be released in 2017, while implementation of the system in Member States may come later than this. Nearly 500 rare diseases have a specific code in the ICD10.
  • The Systematized Nomenclature of Medicine Clinical Terms (SNOMED CT) is run by the International Health Terminology Standards Development Organisation and is available in over 50 countries. It has been adopted as the standard terminology for the National Health Service in the UK and includes not only disease classification but also other medical terminology areas. Nearly 3000 rare diseases have a specific SNOMED CT code.
  • Orphanet is the most comprehensive online database of rare diseases. The Orpha codes system is designed based on Orphanet data. For more information visit Each of the nearly 7000 rare diseases listed on the Orphanet website has an Orpha code, meaning a larger number than those rare diseases that have either an ICD or SNOMED CT code.

Collaboration between the organisations behind these three systems is continuously underway to ensure that they contain comparable data. The European Commission is also supporting the revision process of the ICD to ensure that more rare diseases will have a code in ICD11, possibly all of those already coded within Orphanet.

Recent Progress

In November 2014 a Recommendation on Ways to Improve Codification for Rare Disease in Health Information Systems was adopted by the EU Commission Expert Group on Rare Diseases. The document includes a recommendation to further promote Orpha codes within the development of ICD11 ‘in order to allow a seamless transition of rare disease classification from Orpha codes to ICD11 when the latter is released’. The Expert Group recommends that Member States implement the Orpha codes system and that codification of rare diseases be addressed within Member State rare disease national plans.

Next Steps

Member States should consider adding Orpha codes to their health information systems. It is important for patient advocates to encourage the use of the Orpha codes system as these codes are part of Orphanet, which is, as previously mentioned, the most comprehensive database of rare diseases.

Next steps in the implementation of the Recommendation would see Member States set up a working group in order to define optimal strategy on how to tackle the challenge of integrating Orpha codes into each country’s health information system.

It is also important that the coders be offered an IT tool that helps them enter data as accurately as possible so as to ensure successful adoption of Orpha codes. The same tool would allow any healthcare professional, regardless of their specialisation, level of skill or knowledge of rare diseases, to efficiently “navigate” through the Orpha codes system, allowing them to learn how to identify the correct Orpha code for a disease.

France and Germany have already developed tools suited to their own needs; the French Rare Diseases Data Bank (BNDMR) has developed the web-based LORD (Linking Open Rare Diseases Data) application while DIMDI, the German Institute of Medical Documentation, is in the process of developing an integrated solution to align the Orpha codes with ICD10 GM, the German adaptation of ICD10. Other Member States could build on these early experiences to develop their own solutions. The development of a single tool throughout the EU could be an ideal solution but would require a lot of effort to maintain the system across all languages.

Eva Bearryman, Junior Communications Manager, EURORDIS