neurofibromatosis 1

Term ID

DOID:0111253

Synonyms

• familial spinal neurofibromatosis
• neurofibromatosis type I
• NF1
• Peripheral Neurofibromatosis
• von Recklinghausen Disease

Definition

A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. (2)

References

• ICD10CM:Q85.01
• ICD9CM:237.71
• MESH:D009456
• NCI:C3273
• OMIM:162200
• ORDO:636
• SNOMEDCT_US_2023_03_01:92824003
• UMLS_CUI:C0027831

Ontology

Human Disease   ( DOID:0111253 )