DISEASES Neoplasms [C04] Neoplasms Neoplasms by Histologic Type [C04.557] Neoplasms by Histologic Type Neoplasms, Nerve Tissue [C04.557.580] Neoplasms, Nerve Tissue Nerve Sheath Neoplasms [C04.557.580.600] Nerve Sheath Neoplasms Neurofibroma [C04.557.580.600.580] Neurofibroma Neurofibroma, Plexiform [C04.557.580.600.580.585] Neurofibroma, Plexiform Neurofibromatoses [C04.557.580.600.580.590] Neurofibromatoses Neurofibromatosis 1 [C04.557.580.600.580.590.650] Neurofibromatosis 1 Neurofibromatosis 2 [C04.557.580.600.580.590.655] Neurofibromatosis 2 Neurofibrosarcoma [C04.557.580.600.580.795] Neurofibrosarcoma DISEASES Neoplasms [C04] Neoplasms Neoplastic Syndromes, Hereditary [C04.700] Neoplastic Syndromes, Hereditary Adenomatous Polyposis Coli [C04.700.100] Adenomatous Polyposis Coli Basal Cell Nevus Syndrome [C04.700.175] Basal Cell Nevus Syndrome Birt-Hogg-Dube Syndrome [C04.700.212] Birt-Hogg-Dube Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C04.700.250] Colorectal Neoplasms, Hereditary Nonpolyposis Dysplastic Nevus Syndrome [C04.700.305] Dysplastic Nevus Syndrome Exostoses, Multiple Hereditary [C04.700.330] Exostoses, Multiple Hereditary Hamartoma Syndrome, Multiple [C04.700.435] Hamartoma Syndrome, Multiple Hereditary Breast and Ovarian Cancer Syndrome [C04.700.517] Hereditary Breast and Ovarian Cancer Syndrome Li-Fraumeni Syndrome [C04.700.600] Li-Fraumeni Syndrome Multiple Endocrine Neoplasia [C04.700.630] Multiple Endocrine Neoplasia Neurofibromatoses [C04.700.631] Neurofibromatoses Neurofibromatosis 1 [C04.700.631.650] Neurofibromatosis 1 Neurofibromatosis 2 [C04.700.631.655] Neurofibromatosis 2 Peutz-Jeghers Syndrome [C04.700.633] Peutz-Jeghers Syndrome Tuberous Sclerosis [C04.700.700] Tuberous Sclerosis Wilms Tumor [C04.700.900] Wilms Tumor DISEASES Nervous System Diseases [C10] Nervous System Diseases Neurocutaneous Syndromes [C10.562] Neurocutaneous Syndromes Ataxia Telangiectasia [C10.562.100] Ataxia Telangiectasia Neurofibromatoses [C10.562.600] Neurofibromatoses Neurofibromatosis 1 [C10.562.600.500] Neurofibromatosis 1 Neurofibromatosis 2 [C10.562.600.750] Neurofibromatosis 2 Nevus, Sebaceous of Jadassohn [C10.562.700] Nevus, Sebaceous of Jadassohn Sturge-Weber Syndrome [C10.562.800] Sturge-Weber Syndrome Tuberous Sclerosis [C10.562.850] Tuberous Sclerosis von Hippel-Lindau Disease [C10.562.925] von Hippel-Lindau Disease DISEASES Nervous System Diseases [C10] Nervous System Diseases Neurodegenerative Diseases [C10.574] Neurodegenerative Diseases Heredodegenerative Disorders, Nervous System [C10.574.500] Heredodegenerative Disorders, Nervous System Alexander Disease [C10.574.500.024] Alexander Disease Amyloid Neuropathies, Familial [C10.574.500.050] Amyloid Neuropathies, Familial Bulbo-Spinal Atrophy, X-Linked [C10.574.500.175] Bulbo-Spinal Atrophy, X-Linked Canavan Disease [C10.574.500.300] Canavan Disease Cockayne Syndrome [C10.574.500.362] Cockayne Syndrome Dystonia Musculorum Deformans [C10.574.500.393] Dystonia Musculorum Deformans Gerstmann-Straussler-Scheinker Disease [C10.574.500.425] Gerstmann-Straussler-Scheinker Disease Hepatolenticular Degeneration [C10.574.500.487] Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases [C10.574.500.490] Hereditary Central Nervous System Demyelinating Diseases Hereditary Sensory and Autonomic Neuropathies [C10.574.500.493] Hereditary Sensory and Autonomic Neuropathies Hereditary Sensory and Motor Neuropathy [C10.574.500.495] Hereditary Sensory and Motor Neuropathy Huntington Disease [C10.574.500.497] Huntington Disease Lafora Disease [C10.574.500.529] Lafora Disease Myotonia Congenita [C10.574.500.545] Myotonia Congenita Myotonic Dystrophy [C10.574.500.547] Myotonic Dystrophy Neurofibromatoses [C10.574.500.549] Neurofibromatoses Neurofibromatosis 1 [C10.574.500.549.400] Neurofibromatosis 1 Neurofibromatosis 2 [C10.574.500.549.700] Neurofibromatosis 2 Neuronal Ceroid-Lipofuscinoses [C10.574.500.550] Neuronal Ceroid-Lipofuscinoses Optic Atrophies, Hereditary [C10.574.500.662] Optic Atrophies, Hereditary Pantothenate Kinase-Associated Neurodegeneration [C10.574.500.700] Pantothenate Kinase-Associated Neurodegeneration Spinal Muscular Atrophies of Childhood [C10.574.500.812] Spinal Muscular Atrophies of Childhood Spinocerebellar Degenerations [C10.574.500.825] Spinocerebellar Degenerations Tourette Syndrome [C10.574.500.850] Tourette Syndrome Tuberous Sclerosis [C10.574.500.865] Tuberous Sclerosis Unverricht-Lundborg Syndrome [C10.574.500.875] Unverricht-Lundborg Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Alexander Disease [C16.320.400.024] Alexander Disease Amyloid Neuropathies, Familial [C16.320.400.050] Amyloid Neuropathies, Familial Bulbo-Spinal Atrophy, X-Linked [C16.320.400.100] Bulbo-Spinal Atrophy, X-Linked Canavan Disease [C16.320.400.150] Canavan Disease Cockayne Syndrome [C16.320.400.200] Cockayne Syndrome Dystonia Musculorum Deformans [C16.320.400.330] Dystonia Musculorum Deformans Gerstmann-Straussler-Scheinker Disease [C16.320.400.350] Gerstmann-Straussler-Scheinker Disease Hepatolenticular Degeneration [C16.320.400.361] Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases [C16.320.400.367] Hereditary Central Nervous System Demyelinating Diseases Hereditary Sensory and Motor Neuropathy [C16.320.400.375] Hereditary Sensory and Motor Neuropathy Hereditary Sensory and Autonomic Neuropathies [C16.320.400.415] Hereditary Sensory and Autonomic Neuropathies Huntington Disease [C16.320.400.430] Huntington Disease Lafora Disease [C16.320.400.480] Lafora Disease Mental Retardation, X-Linked [C16.320.400.525] Mental Retardation, X-Linked Myotonia Congenita [C16.320.400.540] Myotonia Congenita Myotonic Dystrophy [C16.320.400.542] Myotonic Dystrophy Neuroacanthocytosis [C16.320.400.550] Neuroacanthocytosis Neurofibromatoses [C16.320.400.560] Neurofibromatoses Neurofibromatosis 1 [C16.320.400.560.400] Neurofibromatosis 1 Neurofibromatosis 2 [C16.320.400.560.700] Neurofibromatosis 2 Neuronal Ceroid-Lipofuscinoses [C16.320.400.600] Neuronal Ceroid-Lipofuscinoses Optic Atrophies, Hereditary [C16.320.400.630] Optic Atrophies, Hereditary Pantothenate Kinase-Associated Neurodegeneration [C16.320.400.650] Pantothenate Kinase-Associated Neurodegeneration Spinal Muscular Atrophies of Childhood [C16.320.400.765] Spinal Muscular Atrophies of Childhood Spinocerebellar Degenerations [C16.320.400.780] Spinocerebellar Degenerations Tourette Syndrome [C16.320.400.820] Tourette Syndrome Tuberous Sclerosis [C16.320.400.880] Tuberous Sclerosis Unverricht-Lundborg Syndrome [C16.320.400.940] Unverricht-Lundborg Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Neoplastic Syndromes, Hereditary [C16.320.700] Neoplastic Syndromes, Hereditary Adenomatous Polyposis Coli [C16.320.700.100] Adenomatous Polyposis Coli Basal Cell Nevus Syndrome [C16.320.700.175] Basal Cell Nevus Syndrome Birt-Hogg-Dube Syndrome [C16.320.700.212] Birt-Hogg-Dube Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C16.320.700.250] Colorectal Neoplasms, Hereditary Nonpolyposis Dysplastic Nevus Syndrome [C16.320.700.305] Dysplastic Nevus Syndrome Exostoses, Multiple Hereditary [C16.320.700.330] Exostoses, Multiple Hereditary Hamartoma Syndrome, Multiple [C16.320.700.435] Hamartoma Syndrome, Multiple Hereditary Breast and Ovarian Cancer Syndrome [C16.320.700.517] Hereditary Breast and Ovarian Cancer Syndrome Li-Fraumeni Syndrome [C16.320.700.600] Li-Fraumeni Syndrome Multiple Endocrine Neoplasia [C16.320.700.630] Multiple Endocrine Neoplasia Neurofibromatoses [C16.320.700.633] Neurofibromatoses Neurofibromatosis 1 [C16.320.700.633.650] Neurofibromatosis 1 Neurofibromatosis 2 [C16.320.700.633.655] Neurofibromatosis 2 Peutz-Jeghers Syndrome [C16.320.700.667] Peutz-Jeghers Syndrome Tuberous Sclerosis [C16.320.700.700] Tuberous Sclerosis Wilms Tumor [C16.320.700.900] Wilms Tumor

Neurofibromatoses - Preferred

Concept UI	M0026175
Scope note	A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
Preferred term	Neurofibromatoses
Entry term(s)	Multiple Neurofibroma Multiple Neurofibromas Neurofibroma, Multiple Neurofibromas, Multiple Neurofibromatosis Neurofibromatosis Syndrome Neurofibromatosis Syndromes Syndrome, Neurofibromatosis Syndromes, Neurofibromatosis

Neurofibromatosis 3 - Narrower

Concept UI	M0337469
Preferred term	Neurofibromatosis 3
Entry term(s)	Neurofibromatosis 3s Neurofibromatosis Type 3 Neurofibromatosis Type 3s Type 3, Neurofibromatosis