Clinical documentation relies on standardized coding systems, such as ICD-10-CM and SNOMED CT®. These foundational vocabularies play a critical role in billing, reporting, and interoperability – but they weren’t designed to capture the full clinical nuance required in many specialty areas.
Fields such as oncology, behavioral health, rare disease research, and genetics require far more precision than standard code sets can provide alone. That’s where specialized terminologies come in. Used alongside foundational systems, these vocabularies enable more detailed documentation, reduce ambiguity, and create higher-quality data that supports analytics, research, and emerging therapies.
In our latest insight brief, Precision medicine and the power of specialized terminologies, we explore why these vocabularies matter – and how they quietly underpin accurate, usable clinical data across the healthcare ecosystem.
To learn how specialized terminologies support precision at the point of care and beyond, click the download button below or keep scrolling for an excerpt on Mondo/OMIM.
MONDO/OMIM
What is it?
Monarch Disease Ontology (Mondo) is a logic-based structure that relates many disease ontologies and terminologies to each other from multiple industry-leading vocabularies like OMIM, Orphanet, and ICD-10-CM. OMIM (Online Mendelian Inheritance in Man) is an authoritative catalog of human genes, genetic disorders, and traits that serves as a key reference within the Mondo framework.
How or why is it used?
Mondo and OMIM are used by researchers, clinicians, and others in the biomedical community for rare disease research. Mondo standardizes genotype, phenotype, and other disease-related concepts, creating a unified foundation for discovery. OMIM, as a core reference within Mondo, supports genetics research, clinical education, and clinical genetics practice. It also aids in understanding relationships between diseases and genes.
Why it matters
Mondo bridges gaps between disparate disease information by cross-referencing source terminologies with precise semantics. OMIM enriches this structure by describing how genetic and environmental factors influence disease manifestations. Together, they support earlier diagnosis, more accurate classification, and better-informed research for rare disease populations, which in turn enables more precise cohort identification and helps connect eligible patients to specialized treatments and clinical trial opportunities.
Example
Diagnosis: Primary ciliary dyskinesia
ICD-10-CM: Single, broad respiratory malformation category
MONDO/OMIM: Structured disease family with dozens of genetically distinct subtypes
Schedule a meeting with an IMO Health expert to learn how IMO Core supports specialized terminologies, including ICD-O-3.2, DSM-5-TR, and Mondo/OMIM.
SNOMED and SNOMED CT® are registered trademarks of SNOMED International.
DSM®, DSM-IV®, DSM-5® are registered trademarks of the American Psychiatric Association, and are used with permission herein. Use of these terms is prohibited without permission of the American Psychiatric Association. Use of this trademark does not constitute endorsement of this product by the American Psychiatric Association.
