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Zhichao Yang1, Shufan Wang1, Bhanu Pratap Singh Rawat1

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Summary
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This study enhances automatic International Classification of Diseases (ICD) coding for rare diseases. A novel knowledge-enhanced model significantly improves ICD code assignment accuracy, especially in few-shot scenarios.

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Area of Science:

  • Medical Informatics
  • Natural Language Processing
  • Machine Learning

Background:

  • Automatic International Classification of Diseases (ICD) coding is complex due to high dimensionality and the long-tail distribution of disease codes.
  • The long-tail challenge, where rare diseases are infrequently coded, hinders accurate automated medical note classification.

Purpose of the Study:

  • To address the long-tail challenge in automatic ICD coding.
  • To improve the accuracy of assigning multiple ICD codes to medical notes, particularly for rare diseases.

Main Methods:

  • Adapted prompt-based fine-tuning with label semantics for few-shot learning.
  • Developed a knowledge-enhanced Longformer model incorporating hierarchy, synonym, and abbreviation knowledge.
  • Utilized contrastive learning for additional pretraining on domain-specific knowledge.

Main Results:

  • Outperformed state-of-the-art methods on the MIMIC-III-full dataset, achieving a 14.5% increase in macro F1 score (from 10.3 to 11.8).
  • On the newly created MIMIC-III-rare50 dataset for rare diseases, the model improved macro F1 from 17.1 to 30.4 and micro F1 from 17.2 to 32.6.

Conclusions:

  • The proposed knowledge-enhanced Longformer effectively addresses the long-tail challenge in automatic ICD coding.
  • The model demonstrates significant improvements in both general and few-shot rare disease coding tasks.