Abstract: The development of information technology and the increasing convenience of information dissemination make it possible to raise patients and their family members' familiarity with rare diseases，primary physicians and specialists' levels of understanding，identification and diagnosis of rare diseases via using a rare disease knowledge network-based platform. In accordance with the analyses of the demand for a rare disease knowledge network-based platform of rare disease patients and their families，clinical healthcare workers，and medical and pharmacological researchers，we designed the technical framework of the rare disease knowledge network-based platform，which showcases the major contents of five layers（data integration，knowledge，function，presentation and users），and clearly indicates seven main functions（comprehensive information，knowledge map，information query，intelligent service，auxiliary registration，communication and interaction，health management）of the knowledge system，with corresponding functional modules developed. This platform will effectively satisfy the diversified needs of users，raise public awareness of rare diseases，facilitate the development of the smart service system for rare diseases，reduce isolated islands or blind spots in rare disease data，and promote the overall and scale effects of rare disease informationization as a good basis.

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

摘要： 随着信息技术的发展和信息传播方式的日益便捷，借助智能知识服务平台增加患者及其家属、基层医生和专科医生等对罕见病的熟悉程度并提高罕见病识别能力和知识水平成为切实可行的措施。本研究在分析罕见病患者及其家属、医务人员和医药科研人员等罕见病智能知识服务平台主要用户知识需求的基础上，设计了罕见病智能知识服务平台的技术架构，展现了数据集成层、知识层、功能层、表现层和用户层的主要内容；明确了罕见病智能知识服务系统的主要功能，包括综合资讯、知识地图、信息查询、智能服务、辅助登记、交流互动和健康管理等，并设计了相应的功能模块，可为有效满足信息时代下不同用户多样化的知识需求、提高公众对罕见病的认知、促进罕见病智能服务体系的建设、减少罕见病研究信息孤岛和数据盲点、充分发挥信息化整体效应和规模效应奠定良好基础。

关键词: 少见病, 罕见病, 人工智能, 知识服务, 平台, 设计