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LD2D.10 Neurofibromatosis type 1

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Neurofibromatosis type 1 (NF1) is an inherited, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumours. Two of the following criteria are required to diagnose NF1: six or more café au lait patches, neurofibromas, i.e. peripheral nerve sheath tumours manifesting as cutaneous, sub-cutaneous or plexiform lesions, skin-fold freckling, two or more iris Lisch nodules, an optic pathway glioma, a specific bony dysplasia (thinning of the long bone cortex, sphenoid wing dysplasia), an affected first-degree relative.

inclusions

• von Recklinghausen disease

synonyms

• Neurofibromatosis type 1
• von Recklinghausen disease
• Neurofibromatosis, peripheral type
• von Recklinghausen neuropathy
• NF1 - [Neurofibromatosis type 1]
• Recklinghausen disease
• Segmental neurofibromatosis 1
• Familial spinal neurofibromatosis

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