SNOMED CT Concept Recommendation from Masked Clinical Context

We introduce OntologyBench, a tiered biomedical retrieval benchmark comprising 471,854 training and 125,744 evaluation query-document relevance pairs across concept grounding, relational retrieval, and compositional phenotype-based retrieval. Although these tasks can be tractable using ontology-aware reference methods, across task tiers, embedding performance is generally lower on relational and compositional tasks than on concept-grounding tasks. Fine-tuning on ontology-derived supervision improves performance on several relational and compositional tasks, whereas the evaluated reranking and LLM-based candidate-scoring methods provide little or no end-to-end improvement. Errors frequently reflect diseases matching only subsets of the phenotype evidence. These findings indicate that the evaluated embedding and reranking configurations do not reliably recover the compatibility encoded by the selected ontology relations and phenotype combinations and motivate retrieval systems that better integrate learned representations with structured biomedical knowledge.

Sentence-embedding models for semantic search are overwhelmingly developed and evaluated on English corpora. When applied to clinical retrieval in other languages -- particularly retrieval of ICD-10-CM / CIE-10 codes -- recall degrades in ways often masked by aggregate benchmarks. We study whether large generative language models can serve as data factories to close this gap. We build a two-stage retriever (bi-encoder followed by cross-encoder reranker), fine-tuned from a Spanish biomedical encoder (PlanTL-GOB-ES/bsc-bio-ehr-es) on Gemini-generated synthetic data covering English, Spanish, Catalan, Italian, Portuguese and French, and evaluate against BioBERT-ST and the un-tuned Spanish encoder. The bi-encoder alone matches BioBERT-ST on MRR (0.876 vs. 0.866) and overtakes it on R@3 (0.650 vs. 0.626) and R@5 (0.804 vs. 0.790) without English biomedical pretraining. Adding a cross-encoder reranker lifts aggregate R@5 to 0.822 and dominates on four of five languages (+0.017 Spanish, +0.033 Catalan, +0.018 French, +0.037 Portuguese) at the cost of a small English regression. The trade-off is clinically acceptable: Portuguese reaches R@5 = 0.829 vs. BioBERT-ST's 0.714. Contributions: an open recipe for building domain-specific medical retrievers from LLM-generated data; quantification of the learning gain (MRR 0.755 to 0.876, +15.9% with ~19,500 synthetic pairs); and a characterisation of where gains concentrate by language and rank.

Clinical value set authoring -- the task of identifying all codes in a standardized vocabulary that define a clinical concept -- is a recurring bottleneck in clinical quality measurement and phenotyping. A natural approach is to prompt a large language model (LLM) to generate the required codes directly, but structured clinical vocabularies are large, version-controlled, and not reliably memorized during pretraining. We propose Retrieval-Augmented Set Completion (RASC): retrieve the $K$ most similar existing value sets from a curated corpus to form a candidate pool, then apply a classifier to each candidate code. Theoretically, retrieve-and-select can reduce statistical complexity by shrinking the effective output space from the full vocabulary to a much smaller retrieved candidate pool. We demonstrate the utility of RASC on 11,803 publicly available VSAC value sets, constructing the first large-scale benchmark for this task. A cross-encoder fine-tuned on SAPBert achieves AUROC0.852 and value-set-level F10.298, outperforming a simpler three-layer Multilayer Perceptron (AUROC0.799, F10.250) and both reduce the number of irrelevant candidates per true positive from 12.3 (retrieval-only) to approximately 3.2 and 4.4 respectively. Zero-shot GPT-4o achieves value-set-level F1~0.105, with 48.6% of returned codes absent from VSAC entirely. This performance gap widens with increasing value set size, consistent with RASC's theoretical advantage. We observe similar performance gains across two other classifier model types, namely a cross-encoder initialized from pre-trained SAPBert and a LightGBM model, demonstrating that RASC's benefits extend beyond a single model class. The code to download and create the benchmark dataset, as well as the model training code is available at: \href{https://github.com/mukhes3/RASC}{https://github.com/mukhes3/RASC}.