医学术语集在罕见病诊疗中的应用

Application of medical terminologies in diagnosis and treatment of rare diseases

介绍和分析了与罕见病相关的主流术语集、知识库、协作网及决策支持系统。人类表型术语集(HPO)等术语集不仅有利于医学领域知识的表达、沉淀及复用,而且有利于各医疗机构间诊疗信息的互联互通及语义互操作,因此可将其作为医疗信息化的标准应用于罕见病协作网。

The rare diseases-related main terminologies,knowledge databases,collaboration networks and decision-making support systems were described and analyzed.The terminologies such as human phenotype ontology are beneficial not only to the expression,precipitation and reuse of knowledge in medical field but also to the interconnection and semantic interoperability of medical information between different medical institutions,and can thus be used as the standards for medical information technology in establishing the collaboration network for rare diseases.