Research Appraisalother

Leveraging Large Language Models with Retrieval-Augmented Generation for Semantic Mapping of Clinical Data Lakes to SNOMED CT

Studies in health technology and informaticsEhrler, Frederic, Singer, Florian, Geçer, Deniz et al.21 May 2026DOI

Clinical Snapshot

75CEBM
Evidence: Moderateother

PICO Framework

P — PopulationClinical data lake concepts from hospital systems requiring standardized terminology mapping
I — InterventionHybrid retrieval-augmented generation (RAG) with large language model (GPT-4.1-mini) for semantic mapping
C — ComparatorRetrieval-only baseline methods for concept mapping
O — OutcomesMapping accuracy (strict, weighted, top-3) across five semantic categories to SNOMED CT

Bottom Line

This preliminary evaluation demonstrates promising results for automated mapping of clinical concepts to SNOMED CT using retrieval-augmented generation with large language models. The hybrid approach achieved 72.8% strict accuracy overall, with particularly strong performance for organism concepts (92.8%) and allergies (84.7%). However, healthcare locations and laboratory samples proved more challenging. While these results suggest potential for reducing manual mapping workload, the study's limitations include single-institution data, lack of statistical testing, and absence of implementation cost analysis. Healthcare organizations considering this technology should pilot test with their specific concept distributions and validate performance before full deployment. The approach shows promise for supporting semantic interoperability initiatives but requires further validation across diverse healthcare settings.

Evidence: Moderate

Key Findings

  • P Value: Not reported

  • Effect Size: Organism concepts: 92.8% strict accuracy; Allergy concepts: 84.7%; Assessment concepts: 72.1%

  • Primary Outcome: Overall mapping accuracy: 72.8% strict, 76.1% weighted, 83.1% top-3

  • Nnt Or Sensitivity: Healthcare locations and laboratory samples showed lower performance (57.5% and 57.1% strict accuracy)

  • Confidence Interval: Not reported

Clinical Application

Requires technical infrastructure for LLM deployment and expert validation workflows Highly relevant for Australian Digital Health initiatives and My Health Record interoperability requirements under SNOMED CT-AU Healthcare institutions implementing SNOMED CT standardization for clinical data lakes

Abstract

Mapping local clinical concepts to standardized terminologies such as SNOMED CT is essential for semantic interoperability and large-scale research, but manual mapping is labor-intensive and difficult to scale. We report a preliminary evaluation of a hybrid approach combining retrieval-augmented generation (RAG) and a large language model (LLM) to support the mapping of hospital datalake concepts to SNOMED CT. Using a dataset of 2,768 concepts annotated by the SIMED across five semantic categories (organisms, healthcare locations, laboratory samples, allergies, and clinical assessments), the pipeline consistently outperformed retrieval-only baselines. For organism concepts, strict accuracy reached 92.8% (weighted 98.0%, top-3 96.7%), while allergy and assessment concepts achieved 84.7% and 72.1% strict accuracy, respectively. Healthcare location and laboratory sample concepts remained more challenging, with strict accuracies of 57.5% and 57.1%, and weighted accuracy varied strongly depending on frequency distributions. Overall, strict accuracy was 72.8%, weighted accuracy 76.1%, and top-3 accuracy 83.1%. These findings suggest that combining RAG with LLM-based reasoning can reduce expert workload while maintaining accuracy, representing a step toward scalable, AI-assisted semantic interoperability in healthcare. The approach relies on a retrieval-augmented generation pipeline using embedding-based candidate retrieval followed by LLM-based disambiguation (GPT-4.1-mini), and is evaluated against a retrieval-only baseline. By improving semantic consistency in clinical data lakes, it indirectly supports interoperable access to patient-level health data.

References

  1. 1.Ehrler, F., Singer, F., Geçer, D., Houeix, J., & Durand, E. (2026). Leveraging Large Language Models with Retrieval-Augmented Generation for Semantic Mapping of Clinical Data Lakes to SNOMED CT. Studies in Health Technology and Informatics. https://doi.org/10.3233/SHTI260288
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