G40.42

Billable

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder

HCC Category Mapping

V28HCC 201 — Seizure Disorders and Convulsions

0.262

V24HCC 79 — Seizure Disorders and Convulsions

0.244

ESRDHCC 79 — Seizure Disorders and Convulsions

0.000

RxHCCHCC 163 — Seizure Disorders, Intractable Epilepsy

0.000

What This Code Means

A rare genetic disorder caused by mutations in the CDKL5 gene that causes severe, early-onset epilepsy often accompanied by developmental delays and other neurological problems.

Coding Tips

•This is a specific genetic epilepsy syndrome; verify genetic testing confirmation in the medical record when possible
•This condition typically presents in infancy with infantile spasms and requires specialized neurological management

Clinical Significance

Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder is a rare genetic epilepsy caused by mutations in the CDKL5 gene, presenting with severe early-onset seizures typically beginning in infancy. Patients experience multiple seizure types, profound developmental delays, and significant neurological impairment requiring comprehensive multidisciplinary care. This is a lifelong condition with substantial healthcare resource needs including specialized neurology, developmental pediatrics, and therapy services.

Documentation Requirements

✓Confirmed CDKL5 gene mutation through genetic testing results
✓Clinical diagnosis of CDKL5 Deficiency Disorder by a neurologist or geneticist
✓Documentation of seizure types and frequency
✓Developmental milestone assessment and delays
✓Current antiepileptic medication regimen
✓Associated comorbidities (cortical visual impairment, motor impairment, gastrointestinal issues)

Use Additional Code

code, if known, to identify associated manifestations, such as:
cortical blindness (H47.61-)
global developmental delay (F88)

Commonly Confused Codes

G40.411 — Other generalized epilepsy, intractable; use when CDKL5 mutation is NOT confirmed G40.834 — Dravet syndrome; different genetic etiology (SCN1A mutation vs CDKL5)G40.814 — Lennox-Gastaut syndrome; distinct EEG and clinical features G40.824 — Epileptic spasms, intractable; CDKL5 may present with spasms but has its own specific code F84.2 — Rett syndrome; historically overlapped with CDKL5 but now recognized as distinct conditions

Code Hierarchy

└G40Epilepsy and recurrent seizures └G40.4Other generalized epilepsy and epileptic syndromes └G40.42Cyclin-Dependent Kinase-Like 5 Deficiency Disorder

└G40.42Cyclin-Dependent Kinase-Like 5 Deficiency Disorder