Intractable Rare Dis Res. 2017;6(2):148-149. (DOI: 10.5582/irdr.2017.01009)

Defining rare diseases in China.

Cui YZ, Han JX

China has the world's largest population of people with rare diseases. However, defining rare diseases remains a challenge in China. Over the past few decades, several definitions have been proposed but they have yet to be agreed to by all stakeholders. To overcome this impasse, a list of several rare diseases has recently been created. This rare disease list might be used in place of a prevalence-based definition, especially in healthcare policy-making.

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