2025 ICD-10-CM code Q85.1
(Active) Effective Date: N/A Revision Date: N/A Deletion Date: N/A Congenital malformations - Other congenital malformations (Q80-Q89) Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99) Feed
Tuberous sclerosis, also known as Bourneville's disease or epiloia, is a genetic disorder characterized by the development of benign tumors in various organs.
Medical necessity for diagnosis and management of TSC is established by the presence of characteristic clinical findings (seizures, intellectual disability, skin lesions, renal angiomyolipoma, etc.) or by genetic confirmation of a TSC1 or TSC2 gene mutation.Ongoing management is medically necessary for monitoring for disease progression and associated complications.
Diagnosis and management of tuberous sclerosis involves a multidisciplinary team including neurologists, dermatologists, nephrologists, geneticists, and other specialists as needed, depending on the symptoms and organ involvement.Regular monitoring of affected organs and management of associated complications (seizures, intellectual disability, renal issues) are crucial.
- Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
- Q80-Q89 (Other congenital malformations)
In simple words: Tuberous sclerosis is a genetic disorder where non-cancerous tumors grow in different parts of the body, like the brain, kidneys, and skin. This can cause problems like seizures, learning difficulties, and skin rashes. The severity varies from person to person.
Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disorder characterized by the development of benign tumors (hamartomas) in multiple organs, including the brain, kidneys, heart, lungs, eyes, and skin.These tumors can lead to a wide range of symptoms, depending on their location and size.Common manifestations include seizures, intellectual disability, developmental delays, autism spectrum disorder, skin lesions (angiofibromas, ash-leaf spots), and renal abnormalities.The severity of TSC varies greatly among individuals, and some affected individuals may have only mild symptoms, while others experience significant disabilities.The condition is caused by mutations in either the TSC1 or TSC2 gene.
Example 1: A 5-year-old child presents with epilepsy, intellectual disability, and facial angiofibromas.Imaging studies reveal subependymal brain lesions consistent with tuberous sclerosis. , A 20-year-old presents with newly diagnosed renal angiomyolipoma and a history of seizures since childhood. Genetic testing confirms a TSC2 gene mutation., A 30-year-old adult with a known diagnosis of TSC presents for routine monitoring.The patient is currently well-controlled on anti-epileptic medication and has no new clinical manifestations.
Detailed patient history including family history of TSC, neurological examination, imaging studies (MRI brain, CT abdomen/pelvis), dermatological examination, ophthalmologic evaluation, renal ultrasound, genetic testing if indicated, and detailed records of all related treatments and interventions.
** Tuberous sclerosis is a complex disorder with variable presentation and management.Accurate coding requires detailed documentation to reflect the patient's specific clinical manifestations and treatment plan.
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