Integrating novel medical concepts and relationships into existing ontologies can significantly enhance their coverage and utility for both biomedical research and clinical applications. Clinical notes, as unstructured documents rich with detailed patient observations, offer valuable context-specific insights and represent a promising yet underutilized source for ontology extension. Despite this potential, directly leveraging clinical notes for ontology extension remains largely unexplored. To address this gap, we propose CLOZE, a novel framework that uses large language models (LLMs) to automatically extract medical entities from clinical notes and integrate them into hierarchical medical ontologies. By capitalizing on the strong language understanding and extensive biomedical knowledge of pre-trained LLMs, CLOZE effectively identifies disease-related concepts and captures complex hierarchical relationships. The zero-shot framework requires no additional training or labeled data, making it a cost-efficient solution. Furthermore, CLOZE ensures patient privacy through automated removal of protected health information (PHI). Experimental results demonstrate that CLOZE provides an accurate, scalable, and privacy-preserving ontology extension framework, with strong potential to support a wide range of downstream applications in biomedical research and clinical informatics.

Medical entity extraction (EE) is a standard procedure used as a first stage in medical texts processing. Usually Medical EE is a two-step process: named entity recognition (NER) and named entity normalization (NEN). We propose a novel method of doing medical EE from electronic health records (EHR) as a single-step multi-label classification task by fine-tuning a transformer model pretrained on a large EHR dataset. Our model is trained end-to-end in an distantly supervised manner using targets automatically extracted from medical knowledge base. We show that our model learns to generalize for entities that are present frequently enough, achieving human-level classification quality for most frequent entities. Our work demonstrates that medical entity extraction can be done end-to-end without human supervision and with human quality given the availability of a large enough amount of unlabeled EHR and a medical knowledge base.