Neurofibromatoses [neurofibromatózy]

topical
28
Terms

neurofibromatóza 3

 

Multiple Neurofibromas
Neurofibromatosis
Neurofibromatosis 3
Neurofibromatosis Syndrome
Neurofibromatosis Type 3

Persistent link   https://www.medvik.cz/link/D017253
Definition

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)

Annotation
multiple neurofibromas; specifics are available
DUI
D017253 MeSH Browser
CUI
M0026175
History note
2000(1993)
Public note
2000; see NEUROFIBROMATOSIS 1993-1999

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 3
CO
complications 1
CN
congenital
DI
diagnosis 10
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 2
GE
genetics 8
HI
history
IM
immunology
ME
metabolism 1
MI
microbiology
MO
mortality 1
NU
nursing
PS
parasitology
PA
pathology 3
PP
physiopathology 1
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 5
UR
urine
VE
veterinary
VI
virology

C Diseases
C04 Neoplasms 12 774
C04.557 Neoplasms by Histologic Type 270
C04.557.580 Neoplasms, Nerve Tissue 22
C04.557.580.600 Nerve Sheath Neoplasms 27
C04.557.580.600.580 Neurofibroma 79
C04.557.580.600.580.585 Neurofibroma, Plexiform 7
C04.557.580.600.580.590 Neurofibromatoses 28
C04.557.580.600.580.590.650 Neurofibromatosis 1 116
C04.557.580.600.580.590.655 Neurofibromatosis 2 32
C04.557.580.600.580.795 Neurofibrosarcoma 9
C04.700 Neoplastic Syndromes, Hereditary 143
C04.700.100 Adenomatous Polyposis Coli 92
C04.700.175 Basal Cell Nevus Syndrome 33
C04.700.212 Birt-Hogg-Dube Syndrome 8
C04.700.250 Colorectal Neoplasms, Hereditary Nonpolyposis 114
C04.700.305 Dysplastic Nevus Syndrome 17
C04.700.330 Exostoses, Multiple Hereditary 12
C04.700.435 Hamartoma Syndrome, Multiple 25
C04.700.517 Hereditary Breast and Ovarian Cancer Syndrome 53
C04.700.600 Li-Fraumeni Syndrome 39
C04.700.630 Multiple Endocrine Neoplasia 32
C04.700.631 Neurofibromatoses 28
C04.700.631.650 Neurofibromatosis 1 116
C04.700.631.655 Neurofibromatosis 2 32
C04.700.633 Peutz-Jeghers Syndrome 37
C04.700.700 Tuberous Sclerosis 141
C04.700.900 Wilms Tumor 112
C10 Nervous System Diseases 1 878
C10.562 Neurocutaneous Syndromes 29
C10.562.100 Ataxia Telangiectasia 47
C10.562.600 Neurofibromatoses 28
C10.562.600.500 Neurofibromatosis 1 116
C10.562.600.750 Neurofibromatosis 2 32
C10.562.700 Nevus, Sebaceous of Jadassohn 7
C10.562.800 Sturge-Weber Syndrome 25
C10.562.850 Tuberous Sclerosis 141
C10.562.925 von Hippel-Lindau Disease 56
C10.574 Neurodegenerative Diseases 641
C10.574.500 Heredodegenerative Disorders, Nervous System 45
C10.574.500.024 Alexander Disease 6
C10.574.500.050 Amyloid Neuropathies, Familial 20
C10.574.500.175 Bulbo-Spinal Atrophy, X-Linked 8
C10.574.500.300 Canavan Disease 9
C10.574.500.362 Cockayne Syndrome 4
C10.574.500.393 Dystonia Musculorum Deformans 3
C10.574.500.425 Gerstmann-Straussler-Scheinker Disease 22
C10.574.500.487 Hepatolenticular Degeneration 243
C10.574.500.490 Hereditary Central Nervous System Demyelinating Diseases 11
C10.574.500.493 Hereditary Sensory and Autonomic Neuropathies 26
C10.574.500.495 Hereditary Sensory and Motor Neuropathy 71
C10.574.500.497 Huntington Disease 322
C10.574.500.529 Lafora Disease 1
C10.574.500.545 Myotonia Congenita 17
C10.574.500.547 Myotonic Dystrophy 94
C10.574.500.549 Neurofibromatoses 28
C10.574.500.549.400 Neurofibromatosis 1 116
C10.574.500.549.700 Neurofibromatosis 2 32
C10.574.500.550 Neuronal Ceroid-Lipofuscinoses 29
C10.574.500.662 Optic Atrophies, Hereditary 5
C10.574.500.700 Pantothenate Kinase-Associated Neurodegeneration 17
C10.574.500.812 Spinal Muscular Atrophies of Childhood 59
C10.574.500.825 Spinocerebellar Degenerations 30
C10.574.500.850 Tourette Syndrome 86
C10.574.500.865 Tuberous Sclerosis 141
C10.574.500.875 Unverricht-Lundborg Syndrome 1
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.400.024 Alexander Disease 6
C16.320.400.050 Amyloid Neuropathies, Familial 20
C16.320.400.100 Bulbo-Spinal Atrophy, X-Linked 8
C16.320.400.150 Canavan Disease 9
C16.320.400.200 Cockayne Syndrome 4
C16.320.400.330 Dystonia Musculorum Deformans 3
C16.320.400.350 Gerstmann-Straussler-Scheinker Disease 22
C16.320.400.361 Hepatolenticular Degeneration 243
C16.320.400.367 Hereditary Central Nervous System Demyelinating Diseases 11
C16.320.400.375 Hereditary Sensory and Motor Neuropathy 71
C16.320.400.415 Hereditary Sensory and Autonomic Neuropathies 26
C16.320.400.430 Huntington Disease 322
C16.320.400.480 Lafora Disease 1
C16.320.400.525 X-Linked Intellectual Disability 17
C16.320.400.540 Myotonia Congenita 17
C16.320.400.542 Myotonic Dystrophy 94
C16.320.400.550 Neuroacanthocytosis 6
C16.320.400.560 Neurofibromatoses 28
C16.320.400.560.400 Neurofibromatosis 1 116
C16.320.400.560.700 Neurofibromatosis 2 32
C16.320.400.600 Neuronal Ceroid-Lipofuscinoses 29
C16.320.400.630 Optic Atrophies, Hereditary 5
C16.320.400.650 Pantothenate Kinase-Associated Neurodegeneration 17
C16.320.400.765 Spinal Muscular Atrophies of Childhood 59
C16.320.400.780 Spinocerebellar Degenerations 30
C16.320.400.820 Tourette Syndrome 86
C16.320.400.880 Tuberous Sclerosis 141
C16.320.400.940 Unverricht-Lundborg Syndrome 1
C16.320.700 Neoplastic Syndromes, Hereditary 143
C16.320.700.100 Adenomatous Polyposis Coli 92
C16.320.700.175 Basal Cell Nevus Syndrome 33
C16.320.700.212 Birt-Hogg-Dube Syndrome 8
C16.320.700.250 Colorectal Neoplasms, Hereditary Nonpolyposis 114
C16.320.700.305 Dysplastic Nevus Syndrome 17
C16.320.700.330 Exostoses, Multiple Hereditary 12
C16.320.700.435 Hamartoma Syndrome, Multiple 25
C16.320.700.517 Hereditary Breast and Ovarian Cancer Syndrome 53
C16.320.700.600 Li-Fraumeni Syndrome 39
C16.320.700.630 Multiple Endocrine Neoplasia 32
C16.320.700.633 Neurofibromatoses 28
C16.320.700.633.650 Neurofibromatosis 1 116
C16.320.700.633.655 Neurofibromatosis 2 32
C16.320.700.667 Peutz-Jeghers Syndrome 37
C16.320.700.700 Tuberous Sclerosis 141
C16.320.700.900 Wilms Tumor 112

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