Medical code embeddings from claims-based co-occurrences: a unified semantic space for ICD-10 diagnoses and ATC medications.

IF 7.1 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS
Corentin Faujour, Stéphane Bouée, Corinne Emery, Anne-Sophie Jannot
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引用次数: 0

Abstract

Objective: The analysis of care trajectories derived from electronic health records and claims data has become increasingly common in biomedical informatics. This has enabled large-scale studies of care processes, yet widely used binary code representations result in high-dimensional, sparse data that fail to capture semantic relationships between medical concepts. Learning dense vector representations (embeddings) has emerged as a promising approach to address these limitations. We aimed to construct and share joint embeddings for the International Classification of Diseases (ICD-10) and the Anatomical Therapeutic Chemical (ATC) classification system, providing reusable semantic representations of diagnoses and treatments from real-world claims data.

Materials and methods: Using claims records from 1.5 million patients, we defined code co-occurrences within temporal windows and constructed a Positive Pointwise Mutual Information (PPMI) matrix spanning ICD-10 and ATC codes. Singular Value Decomposition (SVD) was applied to derive a low-dimensional embedding space. Evaluation combined UMAP visualization, nearest-neighbor retrieval, and a code-level classification task based on ICD chapters and ATC classes.

Results: The embeddings reflected the hierarchical organization of ICD-10 and ATC and revealed associations across coding systems, including clinically relevant diagnosis-treatment relationships. The classification task achieved mean AUCs of 0.93 for ICD-10 and 0.90 for ATC, indicating strong grouping of semantically related codes.

Discussion: The embeddings provide a reusable, code-level semantic representation that can support code retrieval, reduce manual code grouping, and be aggregated into patient-level features without training a task-specific model.

Conclusion: We release the first openly available joint ICD-10-ATC embedding space derived from real-world claims data, providing a reusable resource for biomedical informatics research.

基于索赔的共现医疗代码嵌入:ICD-10诊断和ATC药物的统一语义空间。
目的:从电子健康记录和索赔数据中得出的护理轨迹分析在生物医学信息学中越来越普遍。这使得对护理过程的大规模研究成为可能,但广泛使用的二进制代码表示导致高维、稀疏的数据,无法捕获医学概念之间的语义关系。学习密集向量表示(嵌入)已经成为解决这些限制的一种很有前途的方法。我们的目标是构建和共享国际疾病分类(ICD-10)和解剖治疗化学(ATC)分类系统的联合嵌入,提供来自现实世界索赔数据的诊断和治疗的可重用语义表示。材料和方法:使用来自150万患者的索赔记录,我们定义了时间窗口内的代码共现,并构建了一个跨越ICD-10和ATC代码的正点互信息(PPMI)矩阵。采用奇异值分解(SVD)方法推导低维嵌入空间。评估结合了UMAP可视化、最近邻检索和基于ICD章节和ATC类的代码级分类任务。结果:嵌入反映了ICD-10和ATC的分层组织,并揭示了编码系统之间的关联,包括临床相关的诊断-治疗关系。ICD-10的平均auc为0.93,ATC的平均auc为0.90,表明语义相关代码的强分组。讨论:嵌入提供了可重用的代码级语义表示,可以支持代码检索,减少手动代码分组,并在不训练特定于任务的模型的情况下聚合为患者级功能。结论:我们发布了第一个公开的ICD-10-ATC联合嵌入空间,该空间来源于现实世界的索赔数据,为生物医学信息学研究提供了可重复使用的资源。
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来源期刊
Journal of the American Medical Informatics Association
Journal of the American Medical Informatics Association 医学-计算机:跨学科应用
CiteScore
14.50
自引率
7.80%
发文量
230
审稿时长
3-8 weeks
期刊介绍: JAMIA is AMIA''s premier peer-reviewed journal for biomedical and health informatics. Covering the full spectrum of activities in the field, JAMIA includes informatics articles in the areas of clinical care, clinical research, translational science, implementation science, imaging, education, consumer health, public health, and policy. JAMIA''s articles describe innovative informatics research and systems that help to advance biomedical science and to promote health. Case reports, perspectives and reviews also help readers stay connected with the most important informatics developments in implementation, policy and education.
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