使用自然语言处理来识别系统性乳腺细胞瘤的症状
Fagen Xie1, Kevin Y Tse2, Chantal C Avila1
1Department of Research and Evaluation, Kaiser Permanente Southern California, Pasadena, CA, United States.
JAMIA open
|November 14, 2025
概括
一个新的自然语言处理 (NLP) 算法可以从临床笔记中识别罕见的全身性乳腺细胞瘤 (SM) 症状,帮助更早的诊断. 该工具准确地从电子健康记录 (EHR) 中提取患者的症状,改善罕见疾病的识别.
科学领域:
- 医疗信息学 医疗信息学
- 自然语言处理自然语言处理.
- 罕见疾病 罕见疾病
背景情况:
- 系统性巨细胞瘤 (SM) 是一种罕见的多系统性疾病,具有多种症状,往往导致诊断延迟.
- 电子健康记录 (EHR) 中的非结构化临床笔记包含有价值的症状数据,但缺乏可扩展的提取方法.
- 早期识别MS受到系统记录和分析患者症状的挑战所阻碍.
研究的目的:
- 开发和验证一种自然语言处理 (NLP) 算法,用于识别23种潜在的MS相关症状.
- 评估算法在从SM和比较组的非结构化EHR数据中提取症状的有效性.
- 评估NLP在改善早期发现MS等罕见疾病方面的潜力.
主要方法:
- 一项回顾性研究利用了来自南加利福尼亚州凯泽永久医院 (2008-2023) 的EHR数据.
- 基于规则的NLP算法是使用注释训练数据开发的,并通过双重注释的笔记进行验证.
- 该算法应用于来自MS,慢性自发性疹 (CSU) 和对照患者的大量电子健康记录 (EHR) 队列.
主要成果:
- 对于大多数MS相关症状,NLP算法表现出高精度和回忆 (超过90%).
- 由于含糊不清的引用,人们注意到"腹膜或腹部膨胀"和"胀"的精度较低.
- 症状记录在不同组之间有所不同,SM患者表现出更多的胃肠道和全身症状,CSU患者表现出更多的皮肤症状.
结论:
- 基于规则的NLP是可行的,用于识别MS症状从非结构化的EHR叙述有很强的性能.
- 该算法成功地提取了症状记录中的有意义模式,支持其用于罕见疾病研究的实用性.
- NLP应用可以提高罕见疾病的早期识别,并为数据驱动的医疗保健策略提供信息.
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