2017-2020国家罕见病注册登记系统（NRDRS）疑难罕见病样本网站建设技术资料

中国国家罕见病注册系统（National Rare Diseases Registry System of China, NRDRS）是依托国家重点研发计划精准医学专项“罕见病临床队列研究”（项目编号：2016YFC0901500），由北京协和医院负责建设的国家级罕见病在线注册平台。NRDRS的建设目标是确立统一的罕见病注册标准和规范，联合全国罕见病临床研究的优势单位，形成罕见病研究协作网络，在全国范围内开展患病率相对较高、疾病危害较大的罕见病注册研究，推动我国罕见病临床诊疗能力提升，达到国际先进水平。The National Rare Diseases Registry System of China (NRDRS) is a national online rare disease registry platform developed and managed by Peking Union Medical College Hospital. It is supported by the Clinical Cohort Study of Rare Diseases sub-project under the Precision Medicine Program of the National Key Research and Development Program of China, with the project number 2016YFC0901500. The development goals of NRDRS are to establish unified standards and specifications for rare disease registration, unite leading institutions engaged in rare disease clinical research across the country to build a rare disease research collaboration network, conduct registry studies on rare diseases with relatively high prevalence and substantial disease burden nationwide, and ultimately improve China's clinical diagnosis and treatment capabilities for rare diseases to reach the international advanced level.