ICD-11 code : LD2D.10;
Preferred Label : Neurofibromatosis type 1;
ICD-11 definition : Neurofibromatosis type 1 (NF1) is an inherited, multi-system, neurocutaneous disorder
that predisposes to the development of benign and malignant tumors. Two of the following
criteria are required to diagnose NF1: six or more café au lait patches, neurofibromas,
i.e. peripheral nerve sheath tumors 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.;
ICD-11 synonym : NF1 - [Neurofibromatosis type 1]; Neurofibromatosis, peripheral type; von Recklinghausen neuropathy; Recklinghausen disease; von Recklinghausen disease;
ICD-11 acronym : NF1;
ICD-11 inclusion : von Recklinghausen disease;
Origin ID : 337970533;
UMLS CUI : C0027831;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- ICD-10 Mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
Neurofibromatosis type 1 (NF1) is an inherited, multi-system, neurocutaneous disorder
that predisposes to the development of benign and malignant tumors. Two of the following
criteria are required to diagnose NF1: six or more café au lait patches, neurofibromas,
i.e. peripheral nerve sheath tumors 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.
