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.
2022, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.