Niemann-Pick Diseases [Niemannova-Pickova nemoc]

topical
36
Terms

Niemann-Pickova choroba
Niemann-Pickova nemoc
Niemannova-Pickova choroba
Niemannovy-Pickovy nemoci

 

Acid Sphingomyelinase Deficiency
Acid Sphingomyelinase-Deficient Niemann-Pick Disease
ASM Deficiency
ASM-Deficient Niemann-Pick Disease
Niemann-Pick Disease

Persistent link   https://www.medvik.cz/link/D009542
Definition

A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.

Annotation
note specific types are available
deskriptory pro konkrétní typy nemoci jsou k dispozici
DUI
D009542 MeSH Browser
CUI
M0014846
History note
2000(1966)
Public note
2000; see NIEMANN-PICK DISEASE 1966-1999

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 3
CO
complications 4
DI
diagnosis 18
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology 4
EP
epidemiology 2
EH
ethnology
ET
etiology 7
GE
genetics 6
HI
history
IM
immunology 2
ME
metabolism 4
MI
microbiology
MO
mortality 1
NU
nursing
PS
parasitology
PA
pathology 5
PP
physiopathology 3
PC
prevention & control 1
PX
psychology 2
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 4
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 884
C10.228 Central Nervous System Diseases 810
C10.228.140 Brain Diseases 1 183
C10.228.140.163 Brain Diseases, Metabolic 85
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 28
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 14
C10.228.140.163.100.435.825 Sphingolipidoses 12
C10.228.140.163.100.435.825.200 Fabry Disease 189
C10.228.140.163.100.435.825.250 Farber Lipogranulomatosis 5
C10.228.140.163.100.435.825.300 Gangliosidoses 11
C10.228.140.163.100.435.825.400 Gaucher Disease 83
C10.228.140.163.100.435.825.590 Leukodystrophy, Globoid Cell 17
C10.228.140.163.100.435.825.700 Niemann-Pick Diseases 36
C10.228.140.163.100.435.825.700.500 Niemann-Pick Disease, Type A 6
C10.228.140.163.100.435.825.700.750 Niemann-Pick Disease, Type B 4
C10.228.140.163.100.435.825.700.875 Niemann-Pick Disease, Type C 40
C10.228.140.163.100.435.825.775 Sea-Blue Histiocyte Syndrome 4
C10.228.140.163.100.435.825.850 Sulfatidosis 1
C15 Hemic and Lymphatic Diseases 91
C15.604 Lymphatic Diseases 445
C15.604.250 Histiocytosis 67
C15.604.250.410 Histiocytosis, Non-Langerhans-Cell 23
C15.604.250.410.224 Erdheim-Chester Disease 39
C15.604.250.410.450 Histiocytosis, Sinus 21
C15.604.250.410.575 Lymphohistiocytosis, Hemophagocytic 38
C15.604.250.410.625 Niemann-Pick Diseases 36
C15.604.250.410.625.500 Niemann-Pick Disease, Type A 6
C15.604.250.410.625.750 Niemann-Pick Disease, Type B 4
C15.604.250.410.625.875 Niemann-Pick Disease, Type C 40
C15.604.250.410.800 Sea-Blue Histiocyte Syndrome 4
C15.604.250.410.900 Xanthogranuloma, Juvenile 25
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.189 Brain Diseases, Metabolic, Inborn 28
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 14
C16.320.565.189.435.825 Sphingolipidoses 12
C16.320.565.189.435.825.200 Fabry Disease 189
C16.320.565.189.435.825.250 Farber Lipogranulomatosis 5
C16.320.565.189.435.825.300 Gangliosidoses 11
C16.320.565.189.435.825.400 Gaucher Disease 83
C16.320.565.189.435.825.590 Leukodystrophy, Globoid Cell 17
C16.320.565.189.435.825.700 Niemann-Pick Diseases 36
C16.320.565.189.435.825.700.500 Niemann-Pick Disease, Type A 6
C16.320.565.189.435.825.700.750 Niemann-Pick Disease, Type B 4
C16.320.565.189.435.825.700.875 Niemann-Pick Disease, Type C 40
C16.320.565.189.435.825.775 Sea-Blue Histiocyte Syndrome 4
C16.320.565.189.435.825.850 Sulfatidosis 1
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.641.803 Sphingolipidoses 12
C16.320.565.398.641.803.300 Fabry Disease 189
C16.320.565.398.641.803.325 Farber Lipogranulomatosis 5
C16.320.565.398.641.803.350 Gangliosidoses 11
C16.320.565.398.641.803.441 Gaucher Disease 83
C16.320.565.398.641.803.585 Leukodystrophy, Globoid Cell 17
C16.320.565.398.641.803.730 Niemann-Pick Diseases 36
C16.320.565.398.641.803.730.500 Niemann-Pick Disease, Type A 6
C16.320.565.398.641.803.730.750 Niemann-Pick Disease, Type B 4
C16.320.565.398.641.803.730.875 Niemann-Pick Disease, Type C 40
C16.320.565.398.641.803.850 Sea-Blue Histiocyte Syndrome 4
C16.320.565.398.641.803.925 Sulfatidosis 1
C16.320.565.595 Lysosomal Storage Diseases 73
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System 14
C16.320.565.595.554.825 Sphingolipidoses 12
C16.320.565.595.554.825.200 Fabry Disease 189
C16.320.565.595.554.825.250 Farber Lipogranulomatosis 5
C16.320.565.595.554.825.300 Gangliosidoses 11
C16.320.565.595.554.825.400 Gaucher Disease 83
C16.320.565.595.554.825.590 Leukodystrophy, Globoid Cell 17
C16.320.565.595.554.825.700 Niemann-Pick Diseases 36
C16.320.565.595.554.825.700.500 Niemann-Pick Disease, Type A 6
C16.320.565.595.554.825.700.750 Niemann-Pick Disease, Type B 4
C16.320.565.595.554.825.700.875 Niemann-Pick Disease, Type C 40
C16.320.565.595.554.825.775 Sea-Blue Histiocyte Syndrome 4
C16.320.565.595.554.825.850 Sulfatidosis 1
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.132 Brain Diseases, Metabolic 85
C18.452.132.100 Brain Diseases, Metabolic, Inborn 28
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.132.100.435.825 Sphingolipidoses 12
C18.452.132.100.435.825.200 Fabry Disease 189
C18.452.132.100.435.825.250 Farber Lipogranulomatosis 5
C18.452.132.100.435.825.300 Gangliosidoses 11
C18.452.132.100.435.825.400 Gaucher Disease 83
C18.452.132.100.435.825.590 Leukodystrophy, Globoid Cell 17
C18.452.132.100.435.825.700 Niemann-Pick Diseases 36
C18.452.132.100.435.825.700.500 Niemann-Pick Disease, Type A 6
C18.452.132.100.435.825.700.750 Niemann-Pick Disease, Type B 4
C18.452.132.100.435.825.700.875 Niemann-Pick Disease, Type C 40
C18.452.132.100.435.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.132.100.435.825.850 Sulfatidosis 1
C18.452.584 Lipid Metabolism Disorders 99
C18.452.584.563 Lipid Metabolism, Inborn Errors 154
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.641.803 Sphingolipidoses 12
C18.452.584.563.641.803.300 Fabry Disease 189
C18.452.584.563.641.803.325 Farber Lipogranulomatosis 5
C18.452.584.563.641.803.350 Gangliosidoses 11
C18.452.584.563.641.803.441 Gaucher Disease 83
C18.452.584.563.641.803.585 Leukodystrophy, Globoid Cell 17
C18.452.584.563.641.803.730 Niemann-Pick Diseases 36
C18.452.584.563.641.803.730.500 Niemann-Pick Disease, Type A 6
C18.452.584.563.641.803.730.750 Niemann-Pick Disease, Type B 4
C18.452.584.563.641.803.730.875 Niemann-Pick Disease, Type C 40
C18.452.584.563.641.803.850 Sea-Blue Histiocyte Syndrome 4
C18.452.584.563.641.803.925 Sulfatidosis 1
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.189 Brain Diseases, Metabolic, Inborn 28
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.648.189.435.825 Sphingolipidoses 12
C18.452.648.189.435.825.200 Fabry Disease 189
C18.452.648.189.435.825.250 Farber Lipogranulomatosis 5
C18.452.648.189.435.825.300 Gangliosidoses 11
C18.452.648.189.435.825.400 Gaucher Disease 83
C18.452.648.189.435.825.590 Leukodystrophy, Globoid Cell 17
C18.452.648.189.435.825.700 Niemann-Pick Diseases 36
C18.452.648.189.435.825.700.500 Niemann-Pick Disease, Type A 6
C18.452.648.189.435.825.700.750 Niemann-Pick Disease, Type B 4
C18.452.648.189.435.825.700.875 Niemann-Pick Disease, Type C 40
C18.452.648.189.435.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.648.189.435.825.850 Sulfatidosis 1
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.641.803 Sphingolipidoses 12
C18.452.648.398.641.803.300 Fabry Disease 189
C18.452.648.398.641.803.325 Farber Lipogranulomatosis 5
C18.452.648.398.641.803.350 Gangliosidoses 11
C18.452.648.398.641.803.441 Gaucher Disease 83
C18.452.648.398.641.803.585 Leukodystrophy, Globoid Cell 17
C18.452.648.398.641.803.730 Niemann-Pick Diseases 36
C18.452.648.398.641.803.730.500 Niemann-Pick Disease, Type A 6
C18.452.648.398.641.803.730.750 Niemann-Pick Disease, Type B 4
C18.452.648.398.641.803.730.875 Niemann-Pick Disease, Type C 40
C18.452.648.398.641.803.850 Sea-Blue Histiocyte Syndrome 4
C18.452.648.398.641.803.925 Sulfatidosis 1
C18.452.648.595 Lysosomal Storage Diseases 73
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System 14
C18.452.648.595.554.825 Sphingolipidoses 12
C18.452.648.595.554.825.200 Fabry Disease 189
C18.452.648.595.554.825.250 Farber Lipogranulomatosis 5
C18.452.648.595.554.825.300 Gangliosidoses 11
C18.452.648.595.554.825.400 Gaucher Disease 83
C18.452.648.595.554.825.590 Leukodystrophy, Globoid Cell 17
C18.452.648.595.554.825.700 Niemann-Pick Diseases 36
C18.452.648.595.554.825.700.500 Niemann-Pick Disease, Type A 6
C18.452.648.595.554.825.700.750 Niemann-Pick Disease, Type B 4
C18.452.648.595.554.825.700.875 Niemann-Pick Disease, Type C 40
C18.452.648.595.554.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.648.595.554.825.850 Sulfatidosis 1

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral Disease MeSH Browser

Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression Disease MeSH Browser

Niemann-Pick Disease, Type F Disease MeSH Browser

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