Orphanet completes first chapter of an immense project to render rare diseases more visible in the WHO classification system
The World Health Organization (WHO) oversees the International Classification of Diseases (ICD), the global standard for reporting and categorising diseases. This system serves to "capture snapshot views of population health using such parameters as death, disease, functionality, disability, health and health interventions, which inform management and decision making process in the health system". Tracking the prevalence, morbidity and mortality of rare diseases is especially crucial in order to make the most of limited resources, organise research and trials, and develop the most efficient policy toward the 7,000-plus rare disorders identified to date. Currently, only 250 rare diseases are present in the ICD with their own specific code.
A WHO Topic Advisory Group for rare diseases was established in April 2007 to render rare diseases traceable in mortality and morbidity information systems. The production of the basic information to establish a first draft of the classification of rare diseases was assigned to Orphanet and may serve as a template for the whole revision process as rare diseases involve all areas of medicine.
Orphanet, with its comprehensive peer-reviewed database of information on rare diseases containing over 5,800 inventoried diseases, updated regularly according to the evolution of knowledge, is the ideal partner for the immense task of revising the ICD to include rare disorders. Each Orphanet entry is already indexed with MeSH terms, Orphanet thesaurus of clinical signs and symptoms, ICD-10 codes, and linked to the OMIM database, to an in-house genes database and to PubMed as well as to other websites of interest. Each Orphanet entry has an identity card with epidemiological data (prevalence rank, mode of inheritance, age of onset) and a set of synonyms. Orphanet produces a peer-reviewed encylopaedia of more than 2,600 entries that are added to and updated continuously.
In order to prepare the ICD revision process, Orphanet collected a series of rare diseases classifications mainly based on scientific grounds (aetiology and mechanism). To complement these classifications, Orphanet has developed a strictly clinical in-house classification to meet the needs of the clinicians, funded by the French Health Authority. All the classifications can be viewed on the Orphanet website. These serve as a basis to build the ICD-11 proposals, with support from DG Sanco. Learn more about the Orphanet classification
Orphanet has completed its first ICD chapter revision. Chapter III: Diseases of the blood and blood-forming organs, has been updated to render rare diseases traceable. For each disease entered or revised, Orphanet provides thorough, documented rationale. Experts from each continent are now being identified to review the revisions to ICD Chapter III. After expert review, the revision proposals will be open to public consultation.
In the meantime, Orphanet is busying itself to revise the next chapter, Endocrine, nutritional and metabolic diseases. Orphanet is planning to revise a new chapter every few weeks.
Learn more about the WHO ICD revision process