Rare diseases

Revision of the International Classification of Diseases (ICD). Ensuring codification and classification of rare diseases

The EU has recommended that Member States should to ensure that rare diseases are adequately coded and traceable in all health information systems, encouraging an adequate recognition of the disease in the national healthcare and reimbursement systems based on the International Classification of Diseases (ICD) while respecting national procedures. (Council Recommendation on an action in the field of rare diseases (2009/C 151/02 ) ).

The international reference for classification of diseases and conditions is the International Classification of Diseases (ICD), coordinated by the World Health Organisation (WHO). The Commission will support work with regard to rare diseases within the process of revision of the existing version 10th of the ICD (International Classification of Diseases) in order to ensure a better codification and classification of rare diseases in the future 11th version of the ICD to be adopted in 2015 by the World Health Assembly.

WHO has established various Topic Advisory Groups to serve as planning and advisory bodies in the update and revision process for specific areas. A Group oversees the overall revision process. Working groups the Topic Advisory Groups (TAG) review the proposals. A TAG for rare diseases was established in April 2007 as rare diseases should now be traceable in mortality and morbidity information systems.

Orphanet is contributing to the revision process in close collaboration with the WHO. Orphanet has developed a strictly clinical in-house classification to meet the needs of clinicians. This nomenclature is specific to rare diseases and each rare disease has a unique identifier called Orphacode. The Orphanet team has led the process to incorporate all rare diseases into the ICD-11.