# H-DDx: A Hierarchical Evaluation Framework for Differential Diagnosis

arXiv: https://arxiv.org/abs/2510.03700 · HTML: https://mlsanity.com/paper/2510.03700/

## Key facts

- Cited by 1 papers in the map (data through 14 Oct 2026).
- Builds on 14 of its 32 references that are in the map.
- First posted on arXiv 4 Oct 2025.

## Builds on (most cited first, 14 of 14)

- [Qwen3 Technical Report](https://mlsanity.com/paper/2505.09388/) (2025)
- [GPT-4o System Card](https://mlsanity.com/paper/2410.21276/) (2024)
- [Phi-3 Technical Report: A Highly Capable Language Model Locally on Your Phone](https://mlsanity.com/paper/2404.14219/) (2024)
- [Gemma 3 Technical Report](https://mlsanity.com/paper/2503.19786/) (2025)
- [MedGemma Technical Report](https://mlsanity.com/paper/2507.05201/) (2025)
- [Explainable Prediction of Medical Codes from Clinical Text](https://mlsanity.com/paper/1802.05695/) (2018)
- [Towards Accurate Differential Diagnosis with Large Language Models](https://mlsanity.com/paper/2312.00164/) (2023)
- [DDXPlus: A New Dataset For Automatic Medical Diagnosis](https://mlsanity.com/paper/2205.09148/) (2022)
- [Large Language Models for Disease Diagnosis: A Scoping Review](https://mlsanity.com/paper/2409.00097/) (2024)
- [LLM-empowered Chatbots for Psychiatrist and Patient Simulation: Application and Evaluation](https://mlsanity.com/paper/2305.13614/) (2023)
- [A Preliminary Study of o1 in Medicine: Are We Closer to an AI Doctor?](https://mlsanity.com/paper/2409.15277/) (2024)
- [A Modular Approach for Clinical SLMs Driven by Synthetic Data with Pre-Instruction Tuning, Model Merging, and Clinical-Tasks Alignment](https://mlsanity.com/paper/2505.10717/) (2025)
- [Hierarchical confusion matrix for classification performance evaluation](https://mlsanity.com/paper/2306.09461/) (2023)
- [Hierarchical Scoring for Machine Learning Classifier Error Impact Evaluation](https://mlsanity.com/paper/2508.04489/) (2025)

## Built on by (most cited first, 1 of 1)

- [A Proposed Rubric for Evaluating Expressed Clinical Reasoning in Large Language Model Responses](https://mlsanity.com/paper/2609.37788/) (2026)

## Abstract (arXiv)

An accurate differential diagnosis (DDx) is essential for patient care, shaping therapeutic decisions and influencing outcomes. Recently, Large Language Models (LLMs) have emerged as promising tools to support this process by generating a DDx list from patient narratives. However, existing evaluations of LLMs in this domain primarily rely on flat metrics, such as Top-k accuracy, which fail to distinguish between clinically relevant near-misses and diagnostically distant errors. To mitigate this limitation, we introduce H-DDx, a hierarchical evaluation framework that better reflects clinical relevance. H-DDx leverages a retrieval and reranking pipeline to map free-text diagnoses to ICD-10 codes and applies a hierarchical metric that credits predictions closely related to the ground-truth diagnosis. In benchmarking 22 leading models, we show that conventional flat metrics underestimate performance by overlooking clinically meaningful outputs, with our results highlighting the strengths of domain-specialized open-source models. Furthermore, our framework enhances interpretability by revealing hierarchical error patterns, demonstrating that LLMs often correctly identify the broader clinical context even when the precise diagnosis is missed.
