罕见病知识库和模型库的设计

本研究通过对罕见病国内外文献进行分析并借鉴疾病临床资源库和智能化信息系统的建设思路，明确了罕见病知识库和模型库的构建流程，并对9类知识库和2类模型库之间的关系进行了描述，以完成罕见病知识库和模型库的设计。罕见病知识库的功能涵盖知识表示与存储、专题库构建与查询、分析预测及更新与管理等。知识库的实现可为罕见病患者及其家属、医务工作者和研究人员提供高质量的罕见病预防、诊断和治疗等知识，并能有效支撑智能知识服务平台的构建，为智慧化罕见病知识服务体系的建设奠定良好基础。知识库和模型库的应用可为解决罕见病知识难以获取这一问题提供方案，并为破解罕见病诊断难、易漏诊和误诊等难题提供帮助。

Design of the Knowledge Database and Model Database for Rare Diseases

Based on a review of rare disease studies，insights derived from the ideas of developing the clinical resource database for diseases and intelligent information systems，we determined the process of developing nine types of rare disease knowledge databases and two types of rare disease model databases，and described the association of knowledge and model databases，to complete the design of rare disease knowledge and model databases. Our rare disease knowledge databases involve knowledge demonstration and storage，thematic database construction and query，analysis and prediction，updating and management. With the help of the knowledge databases，high-quality prevention，diagnosis and treatment services related to rare diseases will be made accessible to patients and their families，medical workers and researchers，the construction of intelligent knowledge service platforms will be supported effectively，and the intelligent knowledge-based service system for rare diseases will be developed based on a good basis. The application of these rare disease knowledge databases and model databases will contribute to the development of solutions to difficulties in access to rare disease knowledge，and the addressing of diagnostic difficulties，missed diagnosis and misdiagnosis regarding rare diseases.