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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