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. 2022 Feb;11(1):29-30.
doi: 10.5582/irdr.2022.01034.

The definition of rare disease in China and its prospects

Yanqin Lu  1 , Jinxiang Han  1
Affiliations

The definition of rare disease in China and its prospects

Yanqin Lu et al. Intractable Rare Dis Res. 2022 Feb.

Abstract

The latest definition of rare disease in China was released on September 11, 2021 at the third multidisciplinary expert seminar on the definition of rare diseases/orphan drugs in China. A rare disease is defined as a condition satisfying at least one of the following three criteria: an incidence among newborns of less than 1/10,000, a prevalence of less than 1/10,000, and an affected population of less than 140,000. Before this new definition, rare diseases were defined by different agencies with different parameters in China. The 2021 definition is a milestone, it could further spur the development of rare diseases beyond China's First List of Rare Disease in May 2018. This definition also provides a reference for the total number of rare diseases in China.

Keywords: China; China's First List of Rare Disease; Rare disease; definition; incidence; prevalence.

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

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