An integrated approach for rare disease detection and classification in Spanish pediatric medical reports.

ABSTRACT: Rare disease detection and classification is one of the most significant challenges in the application of Natural Language Processing techniques to the analysis and extraction of information from biomedical texts. In this paper, we present a novel research focused on the detection and classification of rare diseases in clinical notes extracted from a cohort of pediatric patients from the Community of Madrid in Spain. From a set of collected and anonymized medical records, we propose a semi-supervised, keyphrase-based system to perform an initial detection of mentions of rare diseases, which is then validated and refined by experts to build a consolidated dataset concerning a subset of different rare diseases. Based on this dataset, we carry out a series of experiments for rare disease clas

SUBMITTER: Duque A 

PROVIDER: S-EPMC12575776 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature