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Main Authors: John, Luis H., Kors, Jan A., Reps, Jenna M., Rijnbeek, Peter R., Fridgeirsson, Egill A.
Format: Preprint
Published: 2025
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Online Access:https://arxiv.org/abs/2508.14627
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author John, Luis H.
Kors, Jan A.
Reps, Jenna M.
Rijnbeek, Peter R.
Fridgeirsson, Egill A.
author_facet John, Luis H.
Kors, Jan A.
Reps, Jenna M.
Rijnbeek, Peter R.
Fridgeirsson, Egill A.
contents Background: Existing clinical prediction models often represent patient data using features that ignore the semantic relationships between clinical concepts. This study integrates domain-specific semantic information by mapping the SNOMED medical term hierarchy into a low-dimensional hyperbolic space using Poincaré embeddings, with the aim of improving lung cancer onset prediction. Methods: Using a retrospective cohort from the Optum EHR dataset, we derived a clinical knowledge graph from the SNOMED taxonomy and generated Poincaré embeddings via Riemannian stochastic gradient descent. These embeddings were then incorporated into two deep learning architectures, a ResNet and a Transformer model. Models were evaluated for discrimination (area under the receiver operating characteristic curve) and calibration (average absolute difference between observed and predicted probabilities) performance. Results: Incorporating pre-trained Poincaré embeddings resulted in modest and consistent improvements in discrimination performance compared to baseline models using randomly initialized Euclidean embeddings. ResNet models, particularly those using a 10-dimensional Poincaré embedding, showed enhanced calibration, whereas Transformer models maintained stable calibration across configurations. Discussion: Embedding clinical knowledge graphs into hyperbolic space and integrating these representations into deep learning models can improve lung cancer onset prediction by preserving the hierarchical structure of clinical terminologies used for prediction. This approach demonstrates a feasible method for combining data-driven feature extraction with established clinical knowledge.
format Preprint
id arxiv_https___arxiv_org_abs_2508_14627
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle Clinical semantics for lung cancer prediction
John, Luis H.
Kors, Jan A.
Reps, Jenna M.
Rijnbeek, Peter R.
Fridgeirsson, Egill A.
Machine Learning
Background: Existing clinical prediction models often represent patient data using features that ignore the semantic relationships between clinical concepts. This study integrates domain-specific semantic information by mapping the SNOMED medical term hierarchy into a low-dimensional hyperbolic space using Poincaré embeddings, with the aim of improving lung cancer onset prediction. Methods: Using a retrospective cohort from the Optum EHR dataset, we derived a clinical knowledge graph from the SNOMED taxonomy and generated Poincaré embeddings via Riemannian stochastic gradient descent. These embeddings were then incorporated into two deep learning architectures, a ResNet and a Transformer model. Models were evaluated for discrimination (area under the receiver operating characteristic curve) and calibration (average absolute difference between observed and predicted probabilities) performance. Results: Incorporating pre-trained Poincaré embeddings resulted in modest and consistent improvements in discrimination performance compared to baseline models using randomly initialized Euclidean embeddings. ResNet models, particularly those using a 10-dimensional Poincaré embedding, showed enhanced calibration, whereas Transformer models maintained stable calibration across configurations. Discussion: Embedding clinical knowledge graphs into hyperbolic space and integrating these representations into deep learning models can improve lung cancer onset prediction by preserving the hierarchical structure of clinical terminologies used for prediction. This approach demonstrates a feasible method for combining data-driven feature extraction with established clinical knowledge.
title Clinical semantics for lung cancer prediction
topic Machine Learning
url https://arxiv.org/abs/2508.14627