Individuals living with intellectual disability can have multiple co-occurring medical conditions including associated genetic diagnoses. The number of genetic etiologies associated with ID is growing, with some quite new and rare, and others more common and associated with what is often considered a syndrome. In the context of genetic etiologies and associated medical comorbidities, appropriate use of descriptive terminology warrants clarification. Using accurate nomenclature is essential for descriptions, especially as terms are used across both research and clinical reports. Here we discuss several terms that may be confused with each other, including “condition,” “disorder,” “syndrome,” “disease,” and “disability.” Our goal is to shed light on the meanings of the five descriptors and their appropriate use in the ID population, especially in relation to those who have a genetic diagnosis.

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