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ABSTRACT: Background
The Pareto Principle asserts that a large portion of results can be achieved with a small amount of effort. Wakap et al. found that around 80% of individuals with rare diseases (RD) suffer from one of 149 specific rare diseases. A significant challenge in the RD domain is the lack of information, compounded by the fact that most RD are not specifically codifiable in the ICD-10, leading to a deficit in reliable epidemiological data. Additionally, time constraints in medical education hinder the comprehensive teaching of all RD, contributing to the diagnostic odyssey problem through failure of recognizing diseases. We identified the most and second most prevalent RD (prevalences of 1-5/10,000 and 1-9/100,000, respectively) from the Orphanet Epidemiology File, totaling 454
SUBMITTER: Berger A
PROVIDER: S-EPMC11396778 | biostudies-literature | 2024 Sep
REPOSITORIES: biostudies-literature