Neurofibromatosis, type 1
ICD-10 Q85.01 is a billable code used to indicate a diagnosis of neurofibromatosis, type 1.
Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the development of multiple neurofibromas, which are benign tumors that arise from the peripheral nervous system. This condition is caused by mutations in the NF1 gene located on chromosome 17, which plays a crucial role in regulating cell growth. NF1 is often diagnosed in childhood and is associated with a variety of other congenital malformations, including café-au-lait spots, Lisch nodules (iris hamartomas), and skeletal abnormalities. Patients may also experience learning disabilities and an increased risk of certain malignancies. The clinical presentation can vary widely, and while some individuals may have mild symptoms, others may experience significant complications. Accurate coding for NF1 requires careful documentation of the patient's clinical features, family history, and any associated congenital anomalies, as these factors can influence management and prognosis.
Pediatric documentation should include growth and developmental assessments, family history of NF1, and detailed descriptions of skin findings and neurofibromas.
Common scenarios include routine check-ups for children diagnosed with NF1, evaluation of new neurofibromas, and management of learning disabilities.
Pediatric coders must be aware of the developmental implications of NF1 and document any educational interventions or referrals to specialists.
Genetic documentation should include results of NF1 gene testing, family pedigree analysis, and any genetic counseling provided.
Genetic counseling sessions for families with a history of NF1, pre-natal genetic testing discussions, and management of other genetic syndromes associated with NF1.
Genetic coders should ensure that all genetic testing results are accurately reflected in the coding to support the diagnosis of NF1.
Used for routine follow-up visits for patients with NF1.
Documentation must include history, examination, and medical decision-making.
Pediatricians should document developmental assessments and any referrals.
Key features include multiple neurofibromas, café-au-lait spots, Lisch nodules, and potential learning disabilities. Diagnosis is based on clinical criteria and may involve genetic testing.
