关键词: 少见病, 罕见病, 人工智能, 知识服务, 平台, 设计

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