关键词: 少见病, 罕见病, 人工智能, 知识服务, 体系, 设计

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