Biomedical Vocabulary Alignment at Scale in the UMLS Metathesaurus

With 214 source vocabularies, the construction and maintenance process of the UMLS (Unified Medical Language System) Metathesaurus terminology integration system is costly, time-consuming, and error-prone as it primarily relies on (1) lexical and semantic processing for suggesting groupings of synonymous terms, and (2) the expertise of UMLS editors for curating these synonymy predictions. This paper aims to improve the UMLS Metathesaurus construction process by developing a novel supervised learning approach for improving the task of suggesting synonymous pairs that can scale to the size and diversity of the UMLS source vocabularies. We evaluate this deep learning (DL) approach against a rule-based approach (RBA) that approximates the current UMLS Metathesaurus construction process. The key to the generalizability of our approach is the use of various degrees of lexical similarity in negative pairs during the training process. Our initial experiments demonstrate the strong performance across multiple datasets of our DL approach in terms of recall (91-92%), precision (88-99%), and F1 score (89-95%). Our DL approach largely outperforms the RBA method in recall (+23%), precision (+2.4%), and F1 score (+14.1%). This novel approach has great potential for improving the UMLS Metathesaurus construction process by providing better synonymy suggestions to the UMLS editors.