xMICD: Explainable Representation of Multiple ICD Codes

Electronic health record foundation models typically treat ICD diagnosis codes as flat tokens, overlooking the clinically meaningful hierarchical structure that captures disease families, subcategories, and fine-grained diagnostic detail. As a result, existing EHR representation learning methods do not explicitly exploit the hierarchical structure already present in the coding system. In this work, we study ICD-10-CM hierarchy as a general inductive bias for clinical representation learning. We investigate two complementary mechanisms for incorporating hierarchy: first, by augmenting diagnosis sequences in a BERT-style transformer with tokens corresponding to different levels of the ICD hierarchy, and second, by injecting hierarchy into graph-based code representations through hierarchy-aware edges combined with diagnosis co-occurrence structure. Across these settings, we evaluate whether explicit hierarchy improves downstream prediction, which levels of the hierarchy are most useful, whether hierarchy encoding improves transfer across datasets, and how hierarchy reshapes embedding similarity structure. We conduct experiments on two large-scale real-world clinical datasets: MIMIC-IV, used for pretraining and in-domain evaluation, and eICU, used to assess cross-dataset transfer via frozen encoder probing. Our findings show that explicitly encoding ICD hierarchy improves over flat code representations in both in-domain and cross-dataset settings, while revealing that the most useful level of hierarchy depends on both the task and the modeling approach. More broadly, we focus on hierarchy-aware EHR representation learning and show that the benefits of encoding hierarchy are generalizable across modeling settings and hierarchy levels.

Objective: ICD codes are central to reimbursement, research, and population health surveillance, yet automated coding systems often struggle to integrate diagnostic signals from both clinical narratives and structured electronic health record (EHR) variables. We evaluated whether frozen medical large language model (LLM) representations can serve as a shared embedding space for multimodal primary diagnosis category prediction. Materials and Methods: We constructed a MIMIC-IV cohort of 13,645 admissions from the 10 most frequent primary ICD-10 codes, consolidated into seven categories. Structured variables were serialized into clinical narratives and combined with leakage-pruned discharge notes. Using a frozen MedFound-Llama3-8B-finetuned backbone, we extracted hidden states from five transformer layers and trained linear probes for structured-only, unstructured-only, and combined inputs, comparing against XGBoost and information-matched PLM-ICD baselines and evaluating MIMIC-III adaptation with a compact bottleneck adapter. Results: The combined probe performed best on MIMIC-IV (87.69% strict; 91.45% medical accuracy), exceeding both single-modality probes and baselines. The structured-only probe outperformed its standard baseline by 6.19 points in medical accuracy. Diagnostic information became increasingly linearly separable in deeper layers, and a 2M-parameter adapter restored cross-dataset transfer to MIMIC-III using only 5% of target labels. Discussion: LLM embeddings can unify structured and narrative EHR information for multimodal diagnosis prediction, supporting efficient reuse of clinical representations across modalities and datasets through a small representation-level module. Conclusion: Multimodal probing of frozen medical LLM representations provides a practical approach for studying EHR modalities and adapting clinical representations across datasets.

Clinical code prediction maps unstructured discharge summaries to ICD-10-CM leaf codes in a large, sparse, and deeply hierarchical label space. Most systems treat the task as flat multi-label classification, scoring codes independently and providing limited training signal for rare labels. We propose a graph-constrained traversal policy that formulates ICD prediction as a finite-horizon decision process over a pruned code hierarchy. A single language model descends the graph level by level, selecting valid child nodes until billable leaf codes are reached. This converts extreme multi-label prediction into sparse, hierarchy-aware subset decisions while guaranteeing structurally valid outputs. On MIMIC-IV discharge summaries, our best supervised policy, SFT-1+, achieves 0.709 micro-F1 on a curated 50-code subset and 0.527 micro-F1 on the full 15,761-code space, outperforming flat baselines including CAML, LAAT, and PLM-ICD. In the full setting, SFT-1+ improves over the strongest flat baseline by 0.044 micro-F1 and 0.157 macro-F1, suggesting that graph-constrained decomposition mitigates the rare-code bottleneck. A controlled factorial study evaluates architecture, training algorithm, and data budget. Across both scales, one shared policy matches a three-specialist cascade while avoiding its context-window overflow on 28-32% of full-space test notes. Increasing supervised trajectory data is the only intervention that consistently improves performance, while GRPO reinforcement learning provides no benefit over supervised continuation with matched data. These results show that simple graph-constrained policy learning can outperform more complex flat, cascaded, and reinforcement-learning alternatives for extreme clinical code prediction.