Billing Codes for Neurofibromatosis – A Genetic Neurological Condition

Billing Codes for Neurofibromatosis – A Genetic Neurological Condition

Neurofibromatosis is a genetic disorder of the nervous system.

Read in detail the symptoms, treatment methods and ICD-10 codes related to this condition.

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Neurofibromatosis (NF) is a condition that primarily affects the development and growth of nerve cell tissues. Regarded as the most common genetic neurological disorder, this condition causes tumors known as neurofibromas to form on nerve tissue. These tumors can develop anywhere in your nervous system including brain, spinal cord and nerves. The tumors are usually benign (noncancerous) but at times can become cancerous (malignant) and compress the nerves and other tissues, leading to serious damage. Symptoms of this condition are often mild but can lead to severe complications like – facial nerve damage, neurological problems, hearing and vision loss, cardiovascular problems, learning impairment and severe pain, and weakness or numbness in the extremities. Medical billing for this genetic neurological disorder is complex, with ever-changing codes and guidelines.

Medical specialists treating patients with this condition can rely on reputable medical billing and coding companies to meet their claim submission tasks and thus receive reimbursement on time.

Generally, thisneurological disorder is diagnosed in childhood or early adulthood.

Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. Reports suggest that about 50 percent of people newly diagnosed with the disorder have no family history of the condition, which can arise spontaneously through a mutation (change) in the genes. Once this change has taken place, the mutant gene can be passed on to future generations.

Types of Neurofibromatosis (NF) and Related Symptoms There are three major types of neurofibromatosis, each with diverse signs and symptoms.

The condition can cause skin changes, bone deformities, and other problems. In some cases, symptoms may be present at birth or develop during childhood. In some people, symptoms may be mild or may not be noticeable at all, while in others NF can cause significant disability. The three types of NF include – 

Neurofibromatosis Type 1 (NF1) – One of the most common forms of the disease occurring in 1 in 3,000 to 4,000 births, NF1 mostly affects nerves of the outer parts of the body (peripheral nervous system). Also known as von Recklinghausen disease, NF1 usually appears in childhood and the symptoms often become

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noticeable at birth or shortly afterward, and almost always by the age of 10 years.

Symptoms can range from mild to moderate and include multiple birth marks, born deformities, freckling in the armpits or groin area, flat, light brown spots on the skin, lisch nodules in the eyes and learning disabilities. 

Neurofibromatosis Type 2 (NF2) – Also known as vestibular schwannomas,NF2 is much less common than NF1 and the tumors grow on the nerve that carries sound and balance information from the inner ear to the brain. Symptoms generally appear in the late teens and early adult years and include gradual hearing loss, headache, ringing in the ears and loss of balance, dizziness, and vertigo.

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Schwannomatosis–This is a rare type of neurofibromatosis usually affecting people after the age of 20 years. Schwannomatosis causes tumors to develop on the cranial, spinal and peripheral nerves. However, the tumors rarely or do not develop around the vestibulocochlear nerve (that goes to the ear) and hence doesn't cause the hearing loss experienced by people with NF2. Common symptoms are chronic pain, numbness, tingling, and weakness in the toes and fingers.

One of the biggest risk factors for neurofibromatosis (NF) is a family history of the disorder. It is estimated that about half of people with NF1 and NF2 inherit the disease from the affected parent.

How to Diagnose and Treat NF? Diagnosis of this genetic neurological condition will begin with a detailed physical examination and medical history evaluation. Physicians will generally confirm the diagnosis if an individual has at least any two of the following – 

A family history of NF1

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A glioma, or tumor, on the optic nerve (usually without symptoms)

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Lesions in the bone

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Two or more neurofibromas or one "plexiform"

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Freckling in the armpits, under the breast, or in the groin area

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At least two Lisch nodules or small brown spots in the iris

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

At least six "café-au-lait" spots measuring more than 5 millimeters across (in children) or 15 millimeters (in adolescents and adults)

Physicians may use a special lamp to check for café au lait spots or skin marks. Other diagnostic tests include – genetic tests, hearing and balance exams (audiometry and electronystagmography), eye tests (to detect Lisch nodules and cataracts) and imaging tests like X-ray, MRI and CT scan.

Although there is no complete cure for neurofibromatosis (NF), treatment can help control or manage the signs and symptoms to a great extent. Most tumors caused by neurofibromatosis do not require treatment. But tumors that are painful, disfiguring, rapidly growing, and impairing the function or compressing other body parts may need treatment. In some cases, tumors grow fast and may be at risk for becoming cancerous.

Treatment options for the condition involve surgery and other procedures to treat severe symptoms or complications of neurofibromatosis. Surgical procedures include – stereotactic radio surgery, auditory brainstem implants and cochlear implants (to improve hearing for those who have NF2 and hearing loss). On the other hand, malignant tumors and other cancers associated with NF are treated with standard cancer therapies, such as surgery to remove tumors, chemotherapy and radiation therapy. In addition, pain medications like – drugs for nerve pain (such as gabapentin (Neurontin, Gralise, Horizant) or pregabalin), tricyclic antidepressants (such as amitriptyline), Norepinephrine reuptake inhibitors (like duloxetine) and epilepsy medications such as Topiramate (Topamax, Qudexy XR, Trokendi XR) or Carbamazepine (Carbatrol, Tegretol) are also used for treating NF. Early diagnosis and correct treatment modalities help in managing the symptoms of NF in a better manner.

Neurology medical coding involves using the specific ICD-10 diagnosis codes for reporting neurofibromatosis (NF) on your medical claims. ICD-10-CM codes used to indicate a diagnosis of NF include – 

Q85.0 - Neurofibromatosis (nonmalignant)

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Q85.00 - Neurofibromatosis, unspecified

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

Q85.01- Neurofibromatosis, type 1

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Q85.02 - Neurofibromatosis, type 2

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Q85.03 - Schwannomatosis

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Q85.09 - Other neurofibromatosis

Many people with NF experience only mild symptoms and can live a normal, healthy life.

However, in some cases, pain and deformity can lead to significant disability. The outlook for people with neurofibromatosis (NF) depends on the person's age at onset of the disease, and on the number and location of tumors.

Medical billing and coding for Neurofibromatosis can be intricate, as there are several codes associated with the condition. By outsourcing these billing and coding tasks to a reliable and established medical billing outsourcing company (that offers the services of AAPC-certified coding specialists), healthcare practices can ensure correct and timely medical billing and claims submission.

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