Farber Lipogranulomatosis [Farberova nemoc]

topical
5
Terms

deficit kyselé ceramidasy
deficit kyselé ceramidázy
Farberova choroba
Farberova lipogranulomatóza
kyselá ceramidasa - deficience
kyselá ceramidasa - deficit

 

Acid Ceramidase Deficiency
Ceramidase Deficiency
Farber Disease
Farber's Disease
N-Laurylsphingosine Deacylase Deficiency

Persistent link   https://www.medvik.cz/link/D055577
Definition

A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.

DUI
D055577 MeSH Browser
CUI
M0518626
Previous indexing
Lipid Metabolism (1952-1976); Lipid Metabolism, Inborn Errors (1987-2008); Lipidoses (1976-2008); Sphingolipidoses (1992-2008)
History note
2009
Public note
2009

C Diseases
C10.228.140 Brain Diseases 1 178
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100.435.825 Sphingolipidoses 12
C10.228.140.163.100.435.825.200 Fabry Disease 187
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 16
C10.228.140.163.100.435.825.700 Niemann-Pick Diseases 36
C10.228.140.163.100.435.825.775 Sea-Blue Histiocyte Syndrome 4
C10.228.140.163.100.435.825.850 Sulfatidosis 1
C16.320.565.189.435.825 Sphingolipidoses 12
C16.320.565.189.435.825.200 Fabry Disease 187
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 16
C16.320.565.189.435.825.700 Niemann-Pick Diseases 36
C16.320.565.189.435.825.775 Sea-Blue Histiocyte Syndrome 4
C16.320.565.189.435.825.850 Sulfatidosis 1
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.641.803 Sphingolipidoses 12
C16.320.565.398.641.803.300 Fabry Disease 187
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 16
C16.320.565.398.641.803.730 Niemann-Pick Diseases 36
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 72
C16.320.565.595.554.825 Sphingolipidoses 12
C16.320.565.595.554.825.200 Fabry Disease 187
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 16
C16.320.565.595.554.825.700 Niemann-Pick Diseases 36
C16.320.565.595.554.825.775 Sea-Blue Histiocyte Syndrome 4
C16.320.565.595.554.825.850 Sulfatidosis 1
C18.452 Metabolic Diseases 1 196
C18.452.132.100.435.825 Sphingolipidoses 12
C18.452.132.100.435.825.200 Fabry Disease 187
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 16
C18.452.132.100.435.825.700 Niemann-Pick Diseases 36
C18.452.132.100.435.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.132.100.435.825.850 Sulfatidosis 1
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.641.803 Sphingolipidoses 12
C18.452.584.563.641.803.300 Fabry Disease 187
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 16
C18.452.584.563.641.803.730 Niemann-Pick Diseases 36
C18.452.584.563.641.803.850 Sea-Blue Histiocyte Syndrome 4
C18.452.584.563.641.803.925 Sulfatidosis 1
C18.452.648.189.435.825 Sphingolipidoses 12
C18.452.648.189.435.825.200 Fabry Disease 187
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 16
C18.452.648.189.435.825.700 Niemann-Pick Diseases 36
C18.452.648.189.435.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.648.189.435.825.850 Sulfatidosis 1
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.641.803 Sphingolipidoses 12
C18.452.648.398.641.803.300 Fabry Disease 187
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 16
C18.452.648.398.641.803.730 Niemann-Pick Diseases 36
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 72
C18.452.648.595.554.825 Sphingolipidoses 12
C18.452.648.595.554.825.200 Fabry Disease 187
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 16
C18.452.648.595.554.825.700 Niemann-Pick Diseases 36
C18.452.648.595.554.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.648.595.554.825.850 Sulfatidosis 1