Q85.01

Billable

Neurofibromatosis, type 1

HCC Category Mapping

V28HCC 23 — Melanoma and Other Skin Cancers

0.251

V24HCC 12 — Breast, Prostate, and Other Cancers and Tumors

0.150

ESRDHCC 12 — Breast, Prostate, and Other Cancers and Tumors

0.000

What This Code Means

Neurofibromatosis type 1 is an inherited genetic disorder causing multiple benign tumors to grow along nerves, often with skin changes and bone abnormalities.

Coding Tips

•NF1 is the most common type; document specific manifestations such as café-au-lait spots, optic nerve involvement, or skeletal abnormalities
•Consider coding associated complications separately (e.g., malignant peripheral nerve sheath tumors if present)

Clinical Significance

Neurofibromatosis type 1 is the most common form, affecting 1 in 3,000 people and carrying significant cancer risk including malignant peripheral nerve sheath tumors, requiring lifelong surveillance and multidisciplinary management. The condition has high penetrance with variable expression, necessitating individualized care approaches and genetic counseling for families.

Documentation Requirements

✓Two or more NF1 diagnostic criteria met
✓Multiple café-au-lait spots with specific size criteria
✓Two or more neurofibromas or one plexiform neurofibroma
✓Freckling in axillary or inguinal regions
✓Optic glioma documentation
✓Distinctive osseous lesions
✓First-degree relative with NF1
✓Genetic testing results when available

Commonly Confused Codes

Q85.00 — Unspecified NF when NF1 criteria are clearly documented Q85.02 — NF2 (bilateral acoustic neuromas, different presentation)L81.3 — Café-au-lait spots without neurofibromatosis syndrome D36.10 — Individual neurofibromas without syndrome diagnosis

Code Hierarchy

└Q85Phakomatoses, not elsewhere classified └Q85.0Neurofibromatosis (nonmalignant)└Q85.01Neurofibromatosis, type 1

└Q85.01Neurofibromatosis, type 1