Excerpt
A new study reveals that many people living with rare genetic epilepsies receive generic ICD-10 codes, even when syndrome-specific codes exist.

What It’s About
Researchers at UT Health Houston looked through their medical records and found:

Only 56% of individuals with monogenic epilepsies (epilepsies caused by a single genetic variant) were given a syndrome-specific diagnosis code

None of the four individuals with KCNQ2-related epilepsies in the study had a specific code, even though they had become available in 2024

Instead, they were labeled with broader terms like “unspecified epilepsy” or “genetic susceptibility to disease.”

This study had a small sample size, but it suggests there are real inconsistencies between the availability of syndrome-specific ICD-10 codes and their use in clinical practice.

Why It Matters
ICD-10 codes help organize the information in your medical record. They’re also used by researchers to recruit for clinical studies and by insurance companies to approve treatments. When codes aren’t used correctly, people with rare diseases can become even harder to identify. Learn the specific codes for KCNQ2-related epilepsies here.

Quick Term
ICD-10 stands for International Classification of Diseases, 10th Revision. It’s a global system in which every health condition is assigned a specific code used by healthcare professionals.

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