罕见病辅助诊断临床决策支持系统综述  

Review of Auxiliary Diagnosis Clinical Decision Support System of Rare Diseases

作　　者：张睿[1] 郑周荣 陈薇 ZHANG Rui;ZHENG Zhou-rong;CHEN Wei(Information Center of West China Hospital of Sichuan University,Chengdu 610041,Sichuan Province,P.R.C.)

机构地区：[1]四川大学华西医院信息中心,四川省成都市610041 [2]成都电子科技大学计算机科学与工程学院,四川省成都市611731 [3]四川省妇幼保健院药剂科,四川省成都市610045

出　　处：《中国数字医学》2021年第5期86-90,120,共6页China Digital Medicine

基　　金：四川省科技厅重点研发项目-基于表型术语的罕见病早期预警决策支持系统构建(编号:2019YFS0152)。

摘　　要：罕见病因其患病率极低,时常导致临床漏诊情况的发生。随着罕见病诊疗知识在全球范围内的广泛积累,国内外学者开发了一系列罕见病临床决策支持系统(CDSS)以辅助医生决策,这些工具分别从整合现有知识库、文献挖掘、临床电子病历挖掘、在线相似病例检索以及机器学习方法等方面进行研究,产出了一大批优秀的罕见病CDSS。本文对现有主流罕见病CDSS进行详细介绍及比较总结,以期为国内罕见病协作网构建CDSS提供借鉴。For its low prevalence,rare diseases often lead to missed diagnosis.With the accumulation of rare disease diagnosis and treatment knowledge in the world,scholars at home and abroad have developed a series of clinical decision support system(CDSS)to assist doctors in decision-making.These tools research from the integration of existing knowledge base,literature mining,clinical medical record mining,online similar case retrieval and machine learning methods,and produced a large number of excellent CDSSs on rare disease.In this paper,the current mainstream rare disease CDSS are introduced and compared in detail.We hope to provide suggestions for the construction of CDSS in the domestic rare disease collaboration network.

关 键 词：罕见病知识库 人类表型术语 临床决策支持系统 疾病-表型联系 

分 类 号：R319[医药卫生—基础医学] TP391[自动化与计算机技术—计算机应用技术]