Shu Zixin, Hua Rui, Yan Dengying, Lu Chenxia, Ren Meng, Gao Hong, Xu Ning, Li Jun, Zhu Hui, Zhang Jia, Zhao Dan, Hui Chenyang, Liao Chu, Ye Junqiu, Hao Qi, Wang Xinyan, Li Xiaodong, Liu Baoyan, Zhou Xiaji, Zhang Runshun, Xu Min, Zhou Xuezhong
Institute of Medical Intelligence, School of Computer and Information Technology, Beijing Jiaotong University, Beijing, People's Republic of China.
Institute of Liver Diseases, Hubei Key Laboratory of the Theory and Application Research of Liver and Kidney in Traditional Chinese Medicine, Hubei Provincial Hospital of Traditional Chinese Medicine, Wuhan, People's Republic of China.
Methods Inf Med. 2024 Dec;63(5-06):164-175. doi: 10.1055/a-2576-1847. Epub 2025 May 6.
Symptom phenotypes are crucial for diagnosing and treating various disease conditions. However, the diversity of symptom terminologies poses a significant challenge to analyzing and sharing of symptom-related medical data, particularly in the field of traditional Chinese medicine (TCM). This study aims to construct an Integrated Symptom Phenotype Ontology (ISPO) to support data mining of Chinese electronic medical records (EMRs) and real-world studies in the TCM field.We manually annotated and extracted symptom terms from 21 classical TCM textbooks and 78,696 inpatient EMRs, and integrated them with five publicly available symptom-related biomedical vocabularies. Through a human-machine collaborative approach for terminology editing and ontology development, including term screening, semantic mapping, and concept classification, we constructed a high-quality symptom ontology that integrates both TCM and Western medical terminology.ISPO provides 3,147 concepts, 23,475 terms, and 23,363 hierarchical relationships. Compared with international symptom-related ontologies such as the Symptom Ontology, ISPO offers significant improvements in the number of terms and synonymous relationships. Furthermore, evaluation across three independent curated clinical datasets demonstrated that ISPO achieved over 90% coverage of symptom terms, highlighting its strong clinical usability and completeness.ISPO represents the first clinical ontology globally dedicated to the systematic representation of symptoms. It integrates symptom terminologies from historical and contemporary sources, encompassing both TCM and Western medicine, thereby enhancing semantic interoperability across heterogeneous medical data sources and clinical decision support systems in TCM.
症状表型对于各种疾病状况的诊断和治疗至关重要。然而，症状术语的多样性给症状相关医学数据的分析和共享带来了重大挑战，尤其是在中医领域。本研究旨在构建一个综合症状表型本体（ISPO），以支持中医电子病历（EMR）的数据挖掘和中医领域的真实世界研究。我们从21部中医经典教材和78696份住院电子病历中手动注释并提取症状术语，并将它们与五个公开可用的与症状相关的生物医学词汇表进行整合。通过人机协作的术语编辑和本体开发方法，包括术语筛选、语义映射和概念分类，我们构建了一个整合了中医和西医术语的高质量症状本体。ISPO提供了3147个概念、23475个术语和23363个层次关系。与国际上与症状相关的本体（如症状本体）相比，ISPO在术语数量和同义关系方面有显著改进。此外，在三个独立策划的临床数据集中进行的评估表明，ISPO实现了超过90%的症状术语覆盖率，突出了其强大的临床可用性和完整性。ISPO是全球首个致力于系统表示症状的临床本体。它整合了来自历史和当代来源的症状术语，涵盖了中医和西医，从而增强了中医领域异构医学数据源和临床决策支持系统之间的语义互操作性。
