Biomedical Entity Linking

We present SNO-PI, the top-performing submission on SNOMED International's SNOMED CT Entity Linking Benchmark as of 18 October 2026. SNO-PI achieves a macro character IoU of 0.5387, outperforming the organisers' reference system (0.4582; based on the 2024 challenge winner's approach) by 18% relative. Linking clinical mentions to SNOMED CT is a zero- and few-shot problem over a very large label space: the 272 annotated MIMIC-IV discharge summaries cover only 6,595 of the roughly 219,000 eligible concepts, and a third of those occur only once. This motivates a design built on transfer from pre-trained models and human-curated knowledge. SNO-PI combines high-recall span proposal, SapBERT candidate retrieval and listwise ensemble reranking with three BERT-family encoders, each further pre-trained with masked language modelling on unlabelled MIMIC-IV notes and then on SNOMED CT synonyms and hierarchy before task fine-tuning. We find that curated knowledge helps most on concepts never seen in training, yet these concepts remain the main source of error.

Medical Concept Recognition is the task of extracting and grounding spans in medical text to entries in a standard ontology. Current methods are generally developed towards a single ontology and source text type (clinical notes, drug labels, etc.) The central challenge is therefore to build methods that adapt to any target ontology without requiring ontology-specific retraining. More recent approaches like REAL and AutoPCR make direct use of Large Language Models and can theoretically adapt to any ontology choice but suffer from a lack of generalization. We propose UMCR, a pipeline that allows extraction and linking to any target ontology using any source text variety, utilizing direct guideline integration and an agentic linking module. We evaluate our method on the recent MedPath benchmark, covering a wide variety of medical text types and vocabularies, and show that our method achieves strong performance across these tasks. This ability unlocks interoperability in the healthcare domain, allowing for extraction and alignment between different medical standards. Our method also reduces dependence on parametric LLM memory, thanks to improved interaction with the target ontology compared to other proposed approaches.

Biomedical Named Entity Linking (BioNEL) is the task of mapping mentions extracted from biomedical texts to canonical entities or concepts in the standardized knowledge base. Although existing methods have achieved remarkable performance in mapping accuracy, most rely on training with domain-specific datasets, which fundamentally limits their cross-domain adaptability. To address this limitation, we propose BioNEL-RAG, a novel training-free framework that combines retrieval-augmented generation (RAG) with large language models (LLMs). Within this framework, the RAG module focuses on retrieving candidate entities, while the large language model module plays the role of selecting the most appropriate candidate for entity normalization, which is based on the analysis of the mention's context, with the aid of its remarkable text comprehension capabilities. Experimental results demonstrate that BioNEL-RAG achieves performance comparable to existing methods without requiring training on subdomain datasets, whereas these methods necessitate fine-tuning on specific subdomains such as genes, diseases, or chemical compounds.

Biomedical Entity Linking disambiguates mentions to entities in a knowledge base (KB), making it the cornerstone of information extraction pipelines. While embedding-based models are a popular approach for the task, they suffer from a key limitation. They compress mentions (and entities) into a single vector, forcing the model to average away crucial fine-grained differences. We present BELXTR, a novel embedding model based on the multi-vector (a.k.a. late interaction) architecture, which allows to leverage token-level matching information. BELXTR extends the original XTR model to biomedical entity linking by integrating an existing task-specific training objective and exploring active query expansion. Experiments across ten corpora and five KBs show that BELXTR improves upon current state-of-the-art in half of the corpora with an average improvement of 5pp recall@1. The largest gains are reported on the challenging cross-species gene disambiguation subtask, where BELXTR outperforms an LLM-powered retrieve-and-rerank pipeline and closely approaches a specialized rule-based system. Our results highlight multi-vector models as a practical alternative to hard-to-maintain rule-based systems or in scenarios where LLM-based reranking is too costly as in PubMed-scale mining. The code to reproduce our experiments can be found at: https://github.com/sg-wbi/belxtr.

Biomedical ontology normalization maps free-text expressions to standardized concepts, enabling consistent integration and analysis of biomedical data. This task remains challenging because lexical variation and subtle distinctions among hierarchically related concepts can obscure concept boundaries. We present OntologyAligner, a three-stage framework that combines ontology-aligned retrieval, large language model candidate reranking, and selective hierarchy-guided refinement. We also construct PhenoNormBench, a unified benchmark comprising 13,390 samples from seven Human Phenotype Ontology datasets. OntologyAligner achieved state-of-the-art performance on HPO normalization, with 88.78% Macro Top-1 Accuracy and 86.75% Micro Top-1 Accuracy, exceeding the strongest baseline by 4.85 and 5.07 percentage points, respectively. Ablation analyses showed complementary contributions from all three stages, and sensitivity analyses demonstrated stability across candidate-set sizes and model backbones. Applications to MONDO, MEDIC, and NCBITaxon further established portability to other ontologies. OntologyAligner offers a generalizable framework for accurate mapping of biomedical text to structured ontology concepts. PhenoNormBench and the code are publicly available at https://github.com/zhelishisongjie/OntologyAligner.

Biomedical entity linking grounds mentions in clinical and scientific text to entities in a curated knowledge base (KB) with ontological structure, which supports downstream applications such as literature-scale information extraction and patient-record normalization. The task has several challenges at once: the KB contains large numbers of entities, mentions are often ambiguous, and gold labels follow annotation conventions specific to each corpus. To address these challenges, we propose PILOT, a three-stage framework made up of neighborhood-aware retrieval, dual reranking, and score fusion. The retriever injects ontological structure from both the query and KB side, by reformulating mentions and pooling entity embeddings. The retrieved pool is then scored from two complementary views, one over surface forms and one over context, and fused together. PILOT achieves the state of the art on average across five widely-used benchmarks and remains efficient at inference.

Despite recent progress, Biomedical Entity Linking (BEL) with large language models (LLMs) remains computationally inefficient and challenging to deploy in practical settings. In this work, we demonstrate that instruction-tuning of open-source generative models can offer an effective solution when applied at the re-ranking stage of the BEL pipeline. We propose a set-wise instruction-tuning formulation that enables fast and accurate candidate selection. Our method demonstrates strong performance on multiple BEL benchmarks, yielding significant improvements in linking accuracy (3%-24%) while reducing inference time compared to the state-of-the-art. We integrate our generative re-ranker into BeLink, a modular, end-to-end system designed for practical real-world BEL applications.

Biomedical named entity recognition (NER) and entity linking (EL) strongly depend on annotated corpora, but the utility of these resources for benchmarking is often assumed rather than characterized. We present a corpus-centric framework for diagnosing benchmark-relevant properties directly from corpus annotations, concept links, train-test splits, document metadata, and terminology mappings. The framework organizes standardized statistics into five families: (1) scale, density and label distribution, (2) lexical and conceptual structure, (3) train-test overlap, (4) metadata composition, and (5) terminology coverage where applicable. Applying the framework to nine corpora spanning diseases, chemicals, and cell types, we find that corpus properties can differ substantially, even when they address the same apparent task. We find differences in the evaluation signal they provide, the generalization demands they impose, the degree of train-test reuse they permit, and the regions of biomedical literature and concept space they represent. These differences suggest that commonly reported corpus statistics can be insufficient to characterize what biomedical NER and EL benchmarks evaluate. We argue that corpus-centric diagnostics provide a practical framework for analyzing corpora beyond surface descriptors such as corpus size and entity type, for identifying potential transfer risks, and for interpreting the scope of benchmarking conclusions. We release the framework as open-source code with an interactive dashboard to support reproducing our analyses and characterizing additional corpora.

Biomedical entity linking maps textual mentions to concepts in structured knowledge bases such as UMLS or SNOMED CT. Most existing systems link each mention independently, using only the mention or its surrounding sentence. This ignores dependencies between mentions in the same document and can lead to inconsistent predictions, especially when the same concept appears under different surface forms. We introduce LongBEL, a document-level generative framework that combines full-document context with a memory of previous predictions. To make this memory robust, LongBEL is trained with cross-validated predictions rather than gold labels, reducing the mismatch between training and inference and limiting cascading errors. Experiments on five biomedical benchmarks across English, French, and Spanish show that LongBEL improves over sentence-level generative baselines, with the largest gains on datasets where concepts frequently recur within documents. An ensemble of local, global, and memory-based variants achieves the best results across all benchmarks. Further analysis shows that the largest gains occur on recurring concepts, suggesting that LongBEL mainly improves document-level consistency rather than isolated mention disambiguation.

Cross-lingual biomedical entity linking (BEL) maps mentions in any language to unique identifiers in a biomedical knowledge base, supporting clinical and biomedical NLP applications. We identify two issues affecting current systems. First, the UMLS (Bodenreider,2004) aliases used to train cross-lingual BEL retrievers are heavily skewed toward English, so retrievers generalize poorly to non-English mentions. Second, although context is often necessary for disambiguation, naively injecting context into retrievers trained only to align aliases severely degrades retrieval. We propose BioELX, a retrieve-rerank framework that addresses both issues. For retrieval, we continue training SapBERT_multi (Liu et al., 2021b) using Wikidata-derived cross-lingual alias supervision, forming shared concept neighborhoods across languages. For reranking, we adapt pretrained LLM rerankers to entity linking through mention-anchored prompting, which marks the target mention so that rerankers score candidates with respect to the intended mention rather than other salient tokens in the context. Experiments show that BioELX achieves new state-of-the-art results on four cross-lingual BEL benchmarks, improving Recall@1 by 4.8 to 18.2 percentage points over prior best results, without any task-specific BEL annotations. Our code and resources are available at https://github.com/AI4MedCode/BioELX.

This paper presents a transformer-based approach to solving the SympTEMIST named entity recognition (NER) and entity linking (EL) tasks. For NER, we fine-tune a RoBERTa-based (1) token-level classifier with BiLSTM and CRF layers on an augmented train set. Entity linking is performed by generating candidates using the cross-lingual SapBERT XLMR-Large (2), and calculating cosine similarity against a knowledge base. The choice of knowledge base proves to have the highest impact on model accuracy.