Schwannomatosis
ICD-10 Q85.03 is a billable code used to indicate a diagnosis of schwannomatosis.
Schwannomatosis is a rare genetic disorder characterized by the development of multiple schwannomas, which are benign tumors that arise from Schwann cells, the cells that form the myelin sheath around nerves. Unlike neurofibromatosis type 1 and type 2, schwannomatosis typically does not involve the central nervous system and is primarily associated with peripheral nerve tumors. Patients may experience chronic pain, neurological deficits, and other complications due to tumor growth. The condition is often inherited in an autosomal dominant pattern, and genetic mutations in the SMARCB1 or LZTR1 genes have been implicated. Diagnosis is usually confirmed through imaging studies such as MRI, which can reveal the presence of schwannomas, and genetic testing may be performed to identify specific mutations. Management often involves surgical intervention to remove symptomatic tumors, pain management, and regular monitoring for tumor growth. Given its congenital nature, coding for schwannomatosis requires careful attention to the patient's clinical history and genetic background.
Detailed family history, growth and development assessments, and symptom tracking are essential for pediatric patients with schwannomatosis.
Pediatric patients presenting with unexplained pain or neurological deficits, requiring imaging and genetic evaluation.
Consideration of developmental milestones and the impact of tumors on growth and function in children.
Genetic counseling notes, results of genetic tests, and family pedigree charts are crucial for accurate coding.
Patients undergoing genetic testing for familial schwannomatosis or presenting with multiple schwannomas.
Understanding the inheritance patterns and implications for family members is vital for genetic coding.
Used when a schwannoma is surgically removed.
Operative report detailing the tumor's location and size.
Ensure that the procedure is linked to the diagnosis of schwannomatosis.
Schwannomatosis primarily involves the development of multiple schwannomas without the central nervous system involvement seen in neurofibromatosis types 1 and 2. Genetic mutations associated with schwannomatosis are also distinct.
