AHA Coding Clinic® for ICD-10-CM and ICD-10-PCS - 2025 Issue 4; New/Revised ICD-10-CM Codes
CTNNB1 Syndrome
Code Q87.88, CTNNB1 syndrome, has been created to identify CTNNB1 syndrome. CTNNB1 syndrome, also known as CTNNB1 neurodevelopmental disorder, is a rare, severe disorder caused by mutations of the beta-catenin (CTNNB1) gene that is located at the 3q 22.1 chromosomal region. The mutations lead to a wide range of developmental and neurological impairments, including intellectual disability, developmental delays, speech problems, and behavioral issues. Other common features of this syndrome include microcephaly, vision problems, hypotonia and hypertonia. CTNNB1 syndrome is noted for being the most frequent, recurrent monogenic cause of cerebral palsy. Currently, there is no cure for...
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Article Overview
This short article covers CTNNB1 syndrome, also referred to as CTNNB1 neurodevelopmental disorder, and discusses the condition’s genetic basis, common developmental and neurologic features, and current management focus. It is relevant to coders, clinicians, and other readers tracking diagnosis-code updates and rare disease terminology.
Why This Topic Matters
It helps readers understand the purpose of the newly created diagnosis code and the general clinical context behind the condition it represents.
What You Will Learn
- How CTNNB1 syndrome is described in a coding context
- The general clinical features associated with the condition
- Why the condition is relevant to diagnosis coding updates
- The broad focus of current management for this rare disorder
Who Should Read This
- Medical coders
- Coding auditors
- Clinical documentation specialists
- Clinicians
- Health information professionals
Codes Discussed
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