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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
[Rare diseases, definitions and epidemiology]
Alan Donnart1, Viviane Viollet, Marie Roinet-Tournay
1Alliance Maladies Rares, Plateforme Maladies Rares, 96, rue Didot, 75014 Paris, France.
Abstract:
There are between 6 000 to 8 000 rare diseases, of which 80% are of genetic origin. Most of them appear very early in life. Patients and their families are faced with diagnostic delays, inadequate management as well as a lack of information and resources.A large number of these pathologies are also sometimes called orphan diseases because the populations concerned do not find any treatments.
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