ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2D — Phakomatoses or hamartoneoplastic syndromes
LD2D.1 — Neurofibromatoses
LD2D.10 — Neurofibromatosis type 1
ICD-11 LD2D.10 — Neurofibromatosis type 1
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.
It includes 1 item.
- von Recklinghausen disease
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Inherited cancer-predisposing syndromes #2829
- Neurofibromatoses #9892
- Neurofibromatoses #10490
- Neurofibromatoses #15992
- Neurofibromatoses #16082
- Neurofibromatoses #16280
- Neurofibromatoses #22318
- Neurofibromatoses #23342