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• W2950951110 abstract "In order to ascertain the current status of and challenges posed by the incidence and prevalence of rare diseases in China, this study teases out data on the incidence and prevalence of 121 rare diseases listed in China's First List of Rare Disease to provide rationales and references for the development and promotion of rare-disease-related policies. The National Health Commission of the People's Republic of China issued the Rare Disease Diagnosis and Treatment Guide (2019) (denoted here as China's Rare Disease Diagnosis and Treatment Guide), which cited data on the incidence/prevalence of 21 rare diseases (21 of 121 rare diseases, 17.36%). Data on 68 diseases (56.20%) were found in monographs, literature databases, and official websites. Data on the incidence/prevalence of 70 diseases were compiled, though no data were available for the 51 remaining diseases. There are published data on the incidence/prevalence of only 14 diseases at the national level. Sources of data on the incidence and prevalence of rare diseases mainly include cases counts from hospitals (40.56%), other sources of data (24.48%), screening (20.98%), cross-sectional studies (8.39%), and estimates from models (7.69%). Data on the incidence/prevalence of rare diseases in China are limited and typically lack accuracy, uniformity, and timeliness. Epidemiological data at the national level are greatly lacking, and data are not amenable to comparison. China recently initiated epidemiological studies of rare diseases at the national and regional level. The country will continue to promote, use, and update its list of common rare diseases, actively encourage the coding and registration of cases of rare diseases, and take actions to collect, share, and use that information." @default.
• W2950951110 created "2019-06-27" @default.
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• W2950951110 date "2019-05-31" @default.
• W2950951110 modified "2023-10-03" @default.
• W2950951110 title "Incidence and prevalence of 121 rare diseases in China: Current status and challenges" @default.
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• W2950951110 doi "https://doi.org/10.5582/irdr.2019.01066" @default.
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