Preprint
Knowledge Graphs

Learning a Health Knowledge Graph from Electronic Medical Records

Maya Rotmensch(New York University), Yoni Halpern(New York University), Abdulhakim Tlimat(Beth Israel Deaconess Medical Center), Steven Horng(Beth Israel Deaconess Medical Center), David Sontag(Massachusetts Institute of Technology)
July 14, 2017Scientific Reports431 citations

431

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12

Influential Citations

Scientific Reports

Venue

2017

Year

Abstract

Demand for clinical decision support systems in medicine and self-diagnostic symptom checkers has substantially increased in recent years. Existing platforms rely on knowledge bases manually compiled through a labor-intensive process or automatically derived using simple pairwise statistics. This study explored an automated process to learn high quality knowledge bases linking diseases and symptoms directly from electronic medical records. Medical concepts were extracted from 273,174 de-identified patient records and maximum likelihood estimation of three probabilistic models was used to automatically construct knowledge graphs: logistic regression, naive Bayes classifier and a Bayesian network using noisy OR gates. A graph of disease-symptom relationships was elicited from the learned parameters and the constructed knowledge graphs were evaluated and validated, with permission, against Google's manually-constructed knowledge graph and against expert physician opinions. Our study shows that direct and automated construction of high quality health knowledge graphs from medical records using rudimentary concept extraction is feasible. The noisy OR model produces a high quality knowledge graph reaching precision of 0.85 for a recall of 0.6 in the clinical evaluation. Noisy OR significantly outperforms all tested models across evaluation frameworks (p < 0.01).

Analysis

Why This Paper Matters

This paper addresses a critical bottleneck in clinical decision support systems and self-diagnostic tools: the construction of high-quality knowledge bases linking diseases and symptoms. Traditionally, such knowledge bases are manually compiled by experts, which is labor-intensive and difficult to scale, or derived using simple pairwise statistics that may not capture complex relationships. The authors propose an automated pipeline that learns a knowledge graph directly from electronic medical records (EMRs), using probabilistic models. This is significant because EMRs are widely available and continuously updated, offering a scalable and data-driven alternative to manual curation.

The study is particularly relevant as healthcare AI moves toward more integrated and evidence-based decision support. By demonstrating that a noisy OR Bayesian network can learn a knowledge graph that rivals manually constructed ones, the paper provides a practical pathway for building and updating medical knowledge bases in real time. This could accelerate the deployment of AI-driven diagnostic tools and improve their accuracy, especially in settings where expert knowledge is scarce.

Technical Contributions

The paper's key technical contributions include:

  • Automated knowledge graph construction: A pipeline that extracts medical concepts from EMRs and uses maximum likelihood estimation to learn disease-symptom relationships, eliminating the need for manual curation.
  • Comparison of probabilistic models: The authors systematically evaluate logistic regression, naive Bayes, and a Bayesian network with noisy OR gates, providing insights into the trade-offs between model complexity and performance for this task.
  • Noisy OR model: The noisy OR model is shown to be particularly effective, likely because it captures the probabilistic nature of symptom manifestation and the possibility of multiple causes, leading to more accurate and robust knowledge graphs.
  • Validation methodology: The study validates the learned graphs against both Google's manually constructed knowledge graph and expert physician opinions, offering a rigorous evaluation framework that combines automated and human assessment.

Results

The results demonstrate the feasibility of automated knowledge graph construction. The noisy OR model achieved a precision of 0.85 at a recall of 0.6 in clinical evaluation, significantly outperforming logistic regression and naive Bayes across all evaluation frameworks (p < 0.01). This indicates that the noisy OR model provides a better balance between precision and recall, making it more suitable for clinical applications where false positives can be harmful. The validation against Google's knowledge graph and expert opinions further supports the quality of the learned graphs, suggesting that the approach can produce clinically meaningful relationships.

Significance

This paper has significant implications for the AI and healthcare communities. It shows that high-quality medical knowledge can be automatically extracted from unstructured EMRs, which could reduce the cost and time required to build and maintain clinical decision support systems. The methodology is generalizable and could be applied to other domains where knowledge graphs are needed but manual curation is impractical. Moreover, the success of the noisy OR model highlights the importance of probabilistic graphical models in capturing complex medical relationships, potentially inspiring further research in this direction. As EMRs become more ubiquitous, this approach could enable continuous learning and updating of medical knowledge, ultimately improving patient care and outcomes.