Uncertainty Reasoning with Large Language Models for Explainable Disease Diagnosis
Authors: Xiaoyang Fan, Yufan Cai, Zhe Hou, Jin Song Dong
Abstract
Clinical decision-making requires reasoning over incomplete, imprecise, and linguistically expressed patient narratives. While large language models (LLMs) excel at extracting latent information from natural language, they lack the verifiability and interpretability essential for trustworthy medical AI. We propose a neuro-symbolic reasoning framework that aligns LLMs with formal logic to enable explainable and formally verifiable medical diagnosis. Patient descriptions and clinical guidelines are embedded into a neural knowledge base, where LLMs extract structured medical entities, temporal relations, and fuzzy symptom patterns, which are decoded into a symbolic knowledge base expressed in fuzzy logic and declarative rules. We perform two-stage reasoning: (1) inductive symbolic generalization to capture diagnostic patterns from encoded narratives, and (2) inference verification via a logic programming engine to derive and validate diagnoses consistent with clinical standards. Each symptom is treated as a fuzzy predicate with probabilistic weights, and inference paths are auditable, adjustable, and compatible with physician feedback. Unlike purely statistical methods, our system supports iterative refinement: misalignment between LLM-generated diagnoses and ground truth can be traced, explained, and corrected through formal rules. By combining logic-based transparency, LLM adaptability, and probabilistic robustness, the framework enables human-aligned healthcare inference with strong generalization and verifiable, step-by-step reasoning chains. We validate our framework on public benchmarks, demonstrating effective reconciliation of symbolic reasoning and LLMs with real-world clinical narratives. Results show performance comparable to state-of-the-art LLMs, while additionally providing interpretable reasoning paths and formally verifiable diagnostic conclusions.
Large language models (LLMs) show promise in medical diagnosis, but real-world deployment remains challenging due to high-stakes clinical decisions and imperfect reasoning reliability. As a result, careful inspection of model behavior is essential for assessing whether diagnostic reasoning is reliable and clinically grounded. However, debugging medical LLMs remains difficult. First, developers often lack sufficient medical domain expertise to interpret model errors in clinically meaningful terms. Second, models can fail across a large and diverse set of instances involving different input types, tasks, and reasoning steps, making it challenging for developers to prioritize which errors deserve focused inspection. Third, developers struggle to identify recurring error patterns across cases, as existing debugging practices are largely instance-centric and rely on manual inspection of isolated failures. To address these challenges, we present VeriLLMed, a visual analytics system that integrates external biomedical knowledge to audit and debug medical LLM diagnostic reasoning. VeriLLMed transforms model outputs into comparable reasoning paths, constructs knowledge graph-grounded reference paths, and identifies three recurring classes of diagnosis errors: relation errors, branch errors, and missing errors. Case studies and expert evaluation demonstrate that VeriLLMed helps developers identify clinically implausible reasoning and generate actionable insights that can inform the improvement of medical LLMs.
Recent reasoning-centric Large Language Models (LLMs) have made significant strides, yet they predominantly operate on a passive-inference pattern that assumes complete information. In contrast, real-world clinical intelligence is inherently an iterative investigative process requiring strategic evidence acquisition. To bridge this gap, we formalize medical diagnosis as an Iterative Evidence-Seeking Task. We leverage Reinforcement Learning with Verifiable Rewards (RLVR) to elicit intrinsic reasoning within a closed-loop environment, guided by a novel suite of rewards that enforce diagnostic precision and examination consistency. To facilitate this, we introduce the Retrieval-Augmented Generation-based Examination Simulator (RAGES), a high-fidelity clinical oracle that provides realistic, knowledge-grounded follow-up evidence. Empirical results across diverse datasets demonstrate that our framework enables LLMs to transition from passive responders to autonomous assistants. Notably, our model demonstrates comparable performance to larger and reasoning-enhanced baselines, while RAGES proves superior to vanilla LLMs in generating biologically plausible clinical feedback.
Large language models (LLMs) increasingly serve as data-driven reasoners, yet their chains-of-thought (CoT) can be unfaithful even when final answers are correct. Most existing verification'' signals are not diagnostic: answer matching observes only the outcome, LLM-as-judge provides subjective and non-verifiable critiques, and scalar rewards (e.g., PRMs/RMs) offer little insight into where a multi-step derivation fails.We propose \textbf{SymDiag}, a neuro-symbolic framework that \textbf{reframes reasoning verification as structured failure diagnosis}. SymDiag translates natural-language CoT into symbolic constraints and performs step-level satisfiability/entailment checks to (i) localize failing steps and (ii) produce verifiable diagnostic evidence, including counterexamples, inconsistency witnesses, and missing-premise indicators. A central challenge is that apparent logic violations'' can be caused either by genuine reasoning defects or by neural-to-symbolic translation noise. SymDiag therefore incorporates a Self-Auditor that disentangles TranslationError from ReasoningError via dual symbolic encodings consistency checks, enabling robust diagnosis under partial observability. Across diverse mathematical, logical, scientific, and general reasoning benchmarks, SymDiag improves detection of unfaithful reasoning and provides substantially more effective feedback for multi-round reasoning repair than outcome-only verification and LLM-based judging, offering a principled foundation for trustworthy and scalable reasoning diagnosis.