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《Guidelines for diagnosis and treatment of rare diseases (2019 Edition)》
2019-11-03Source：
The guide for diagnosis and treatment of rare diseases (2019 Edition) is led by the office of the Expert Committee for diagnosis and treatment of rare diseases of the national health and Health Commission (Beijing Union Hospital, Chinese Academy of Medical Sciences). It is the first guide for diagnosis and treatment of rare diseases, covering 121 kinds of rare diseases, reflecting the scientificity, authority, standardization, representativeness and reality of diagnosis, differential diagnosis and treatment of rare diseases in China Usability and guidance. The definition, etiology, epidemiology, clinical manifestation, auxiliary examination, diagnosis, differential diagnosis and treatment of 121 kinds of rare diseases are described in detail. At the end of each kind of rare disease, the diagnosis and treatment process is proposed. The diagnosis process and treatment principle are presented to the readers in the form of clear flow chart, which is a highlight of this guide and fully embodies the standard of this guide for the diagnosis and treatment practice of rare diseases Sex, guidance and practicality.