UNC Health Unveils Rare Disease Coding Tool in Epic

Why It Matters

Consistent rare‑disease coding fills gaps in ICD coverage, enabling better patient management, data analytics, and research across health systems.

Key Takeaways

• Mondo ontology adds ~5,000 rare disease codes to Epic.
• Over 25,000 existing disease codes revised for consistency.
• Tool rolls out to 20 hospitals, 900 clinics this year.
• Standardized coding enhances diagnosis, care coordination.
• Supports research and analytics on rare disease populations.

Pulse Analysis

Rare diseases have long suffered from fragmented terminology, with many conditions missing dedicated ICD‑10 or ICD‑11 codes. This creates barriers for clinicians trying to document diagnoses accurately and hampers epidemiological research. The Mondo Disease Ontology addresses these gaps by consolidating terminologies from ClinGen, Orphanet, OMIM, and other sources into a single, curated framework, offering a comprehensive lexicon that aligns with modern genomic and phenotypic data.

UNC Health’s integration of Mondo into Epic via the IMO Core update marks a pivotal step in operationalizing this ontology at scale. By embedding roughly 5,000 new rare‑disease codes and updating over 25,000 related entries, the system provides clinicians with precise, searchable identifiers at the point of care. The rollout across 20 hospitals and 900 clinics ensures that patients receive consistent documentation, facilitating smoother referrals, insurance processing, and longitudinal tracking within the network.

Beyond immediate clinical benefits, the standardized coding infrastructure unlocks new opportunities for data‑driven research and population health management. Researchers can now aggregate rare‑disease cohorts across institutions with confidence in code uniformity, accelerating drug development and outcome studies. As other health systems observe UNC Health’s model, broader adoption could drive industry‑wide interoperability, making rare‑disease data a first‑class citizen in electronic health records and health information exchanges.