Rehabilitation Medicine Department, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Department of Computer Science and Engineering, The Ohio State University, Columbus, Ohio, USA.
J Am Med Inform Assoc. 2021 Mar 1;28(3):516-532. doi: 10.1093/jamia/ocaa269.
Normalizing mentions of medical concepts to standardized vocabularies is a fundamental component of clinical text analysis. Ambiguity-words or phrases that may refer to different concepts-has been extensively researched as part of information extraction from biomedical literature, but less is known about the types and frequency of ambiguity in clinical text. This study characterizes the distribution and distinct types of ambiguity exhibited by benchmark clinical concept normalization datasets, in order to identify directions for advancing medical concept normalization research.
We identified ambiguous strings in datasets derived from the 2 available clinical corpora for concept normalization and categorized the distinct types of ambiguity they exhibited. We then compared observed string ambiguity in the datasets with potential ambiguity in the Unified Medical Language System (UMLS) to assess how representative available datasets are of ambiguity in clinical language.
We found that <15% of strings were ambiguous within the datasets, while over 50% were ambiguous in the UMLS, indicating only partial coverage of clinical ambiguity. The percentage of strings in common between any pair of datasets ranged from 2% to only 36%; of these, 40% were annotated with different sets of concepts, severely limiting generalization. Finally, we observed 12 distinct types of ambiguity, distributed unequally across the available datasets, reflecting diverse linguistic and medical phenomena.
Existing datasets are not sufficient to cover the diversity of clinical concept ambiguity, limiting both training and evaluation of normalization methods for clinical text. Additionally, the UMLS offers important semantic information for building and evaluating normalization methods.
Our findings identify 3 opportunities for concept normalization research, including a need for ambiguity-specific clinical datasets and leveraging the rich semantics of the UMLS in new methods and evaluation measures for normalization.
将医学概念的提及规范化到标准词汇表是临床文本分析的基本组成部分。歧义词或短语可能指的是不同的概念,这已经作为从生物医学文献中提取信息的一部分进行了广泛的研究,但对于临床文本中的歧义类型和频率知之甚少。本研究通过对基准临床概念规范化数据集的分布和不同类型的歧义进行特征描述,以确定推进医学概念规范化研究的方向。
我们在两个可用于概念规范化的现有临床语料库中确定了数据集的歧义字符串,并对它们表现出的不同类型的歧义进行了分类。然后,我们将数据集中观察到的字符串歧义与统一医学语言系统 (UMLS) 中的潜在歧义进行了比较,以评估可用数据集对临床语言中歧义的代表性程度。
我们发现,数据集中只有不到 15%的字符串是歧义的,而 UMLS 中超过 50%的字符串是歧义的,这表明仅部分覆盖了临床歧义。任何一对数据集之间的字符串共同比例范围从 2%到仅 36%;其中,40%用不同的概念集进行了注释,严重限制了概括能力。最后,我们观察到 12 种不同类型的歧义,分布在可用数据集中不均衡,反映了不同的语言和医学现象。
现有的数据集不足以涵盖临床概念歧义的多样性,限制了临床文本规范化方法的训练和评估。此外,UMLS 为构建和评估规范化方法提供了重要的语义信息。
我们的研究结果确定了规范化研究的三个机会,包括需要特定于歧义的临床数据集,以及在新方法和规范化评估措施中利用 UMLS 的丰富语义。