Ontology-based knowledge representation for bone disease diagnosis: a foundation for safe and sustainable medical artificial intelligence systems

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Autori principali: Dao, Loan, Ly, Ngoc Quoc
Natura: Preprint
Pubblicazione: 2025
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author Dao, Loan
Ly, Ngoc Quoc
author_facet Dao, Loan
Ly, Ngoc Quoc
contents Medical artificial intelligence (AI) systems frequently lack systematic domain expertise integration, potentially compromising diagnostic reliability. This study presents an ontology-based framework for bone disease diagnosis, developed in collaboration with Ho Chi Minh City Hospital for Traumatology and Orthopedics. The framework introduces three theoretical contributions: (1) a hierarchical neural network architecture guided by bone disease ontology for segmentation-classification tasks, incorporating Visual Language Models (VLMs) through prompts, (2) an ontology-enhanced Visual Question Answering (VQA) system for clinical reasoning, and (3) a multimodal deep learning model that integrates imaging, clinical, and laboratory data through ontological relationships. The methodology maintains clinical interpretability through systematic knowledge digitization, standardized medical terminology mapping, and modular architecture design. The framework demonstrates potential for extension beyond bone diseases through its standardized structure and reusable components. While theoretical foundations are established, experimental validation remains pending due to current dataset and computational resource limitations. Future work will focus on expanding the clinical dataset and conducting comprehensive system validation.
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id arxiv_https___arxiv_org_abs_2506_04756
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publishDate 2025
record_format arxiv
spellingShingle Ontology-based knowledge representation for bone disease diagnosis: a foundation for safe and sustainable medical artificial intelligence systems
Dao, Loan
Ly, Ngoc Quoc
Artificial Intelligence
Computer Vision and Pattern Recognition
Image and Video Processing
Medical artificial intelligence (AI) systems frequently lack systematic domain expertise integration, potentially compromising diagnostic reliability. This study presents an ontology-based framework for bone disease diagnosis, developed in collaboration with Ho Chi Minh City Hospital for Traumatology and Orthopedics. The framework introduces three theoretical contributions: (1) a hierarchical neural network architecture guided by bone disease ontology for segmentation-classification tasks, incorporating Visual Language Models (VLMs) through prompts, (2) an ontology-enhanced Visual Question Answering (VQA) system for clinical reasoning, and (3) a multimodal deep learning model that integrates imaging, clinical, and laboratory data through ontological relationships. The methodology maintains clinical interpretability through systematic knowledge digitization, standardized medical terminology mapping, and modular architecture design. The framework demonstrates potential for extension beyond bone diseases through its standardized structure and reusable components. While theoretical foundations are established, experimental validation remains pending due to current dataset and computational resource limitations. Future work will focus on expanding the clinical dataset and conducting comprehensive system validation.
title Ontology-based knowledge representation for bone disease diagnosis: a foundation for safe and sustainable medical artificial intelligence systems
topic Artificial Intelligence
Computer Vision and Pattern Recognition
Image and Video Processing
url https://arxiv.org/abs/2506.04756