AHA Coding Clinic® for ICD-10-CM and ICD-10-PCS - 2024 Issue 4; New/Revised ICD-10-CM Codes
Kleefstra Syndrome
A new code has been created at subcategory Q87.8, Other specified congenital malformation syndromes, not elsewhere classified, to specifically identify Kleefstra syndrome (KS) as follows: Q87.86, Kleefstra syndrome KS is a rare neurodevelopmental disorder caused by a disruption to one copy of the gene EHMT1 at 9q34.3. People with this syndrome usually have a small head size (microcephaly), a broad forehead, distinct facial features, developmental delay, intellectual disability, low muscle tone (hypotonia), and communication difficulties. Many patients with KS are also epileptic. The severity of these symptoms varies from mild to severe. This disorder is...
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Article Overview
This article covers the creation of a new ICD-10-CM diagnosis code for Kleefstra syndrome and provides a brief overview of the condition. It is relevant to coders, clinicians, researchers, and healthcare organizations tracking congenital and neurodevelopmental disorders, as well as anyone interested in classification updates that support care planning, research, and population-level reporting.
Why This Topic Matters
The update matters because it adds a specific diagnosis identifier for a rare syndrome, improving the ability to categorize cases consistently for care documentation, research, and broader health data analysis.
What You Will Learn
- How the article describes the classification update for Kleefstra syndrome
- What broad clinical characteristics are associated with the condition
- Why a distinct diagnosis identifier is useful for care and research contexts
- What general kinds of operational and population-health uses the code may support
Who Should Read This
- Medical coders
- Coding educators
- Clinicians
- Geneticists
- Researchers
- Health information management professionals
- Healthcare administrators
Codes Discussed
Code Ranges Discussed
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