Abstract: We discussed the design of the Intelligent Knowledge Service System for Rare Diseases，aiming at：making it more convenient for patients，their family members and medical workers to obtain accurate information regarding rare diseases，such as clinical characteristics，specialists，distribution of pharmacological resources，and so on，providing support for tackling difficulties in rare disease diagnosis and treatment，promoting doctor-patient communication and raising public awareness of rare diseases. The design ideas are as follows：firstly，developing a pattern of service delivery according to the features of audience. Secondly，widely collecting authoritative information regarding rare diseases via reviewing data about guidelines on rare disease diagnosis and treatment，analysis of typical cases，rare disease studies and books as well as clinical diagnostic criteria，then revising the information according to specialists' suggestions based on a review，and using it to develop an information system，nine knowledge databases and two model databases，and eventually developing an intelligent platform for rare diseases using artificial intelligence，data mining，big data processing and software engineering techniques. By means of the infomation platform，this system supports the provision of 10 intelligent services（including remote healthcare，internet-based healthcare） for patients and their families，medical workers and healthcare administrators using a convenient and efficient approach，the raising of levels of rare disease identification，screening and diagnosis，rare disease registration and mapping，and rare disease prevention and treatment.

Key words: Rare diseases, Orphan disesaes, Artificial intelligent, Knowledge service, System, Design

摘要： 为使罕见病患者及其家属和医务人员等更加精准便捷地获取罕见病知识、熟悉罕见病的临床特点及了解罕见病专家和药物资源分布，并缓解罕见病诊疗难题、促进医患交流及提高公众对罕见病的认知水平，本文对罕见病智能知识服务体系的设计进行了探讨。罕见病智能知识服务体系的设计思路为：根据罕见病知识受众的特点，设计罕见病知识服务模式；通过对罕见病诊疗指南、经典病例、专业文献、专业书籍和临床诊断标准等资料进行整理和分析以广泛采集罕见病领域的权威知识，在由罕见病领域专家对其进行审核的基础上，基于人工智能、数据挖掘、大数据处理和软件工程等技术形成多样化的罕见病知识体系、知识库和模型库，最终构建罕见病智能知识服务平台。借助信息化平台和“互联网+医疗”远程、智能、便捷和高效的独特优势为患者及其家属、医务人员和管理者等提供10类智能化服务的同时，提升罕见病的识别、筛查和诊断水平，促进罕见病注册和疾病地图绘制，并助力罕见病防治。

关键词: 少见病, 罕见病, 人工智能, 知识服务, 体系, 设计