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syndrom histiocytů barvy mořské modři [Sea-Blue Histiocyte Syndrome]

tematický
4
Termíny

Histiocyte Syndrome, Sea Blue
Histiocyte Syndromes, Sea Blue
Histiocytosis, Sea-Blue
Sea Blue Histiocytosis
Sea-Blue Histiocyte Disease
Sea-Blue Histiocytosis

Perzistentní odkaz   https://www.medvik.cz/link/D012618
Definice

Vrozené onemocnění postihující apolipoproteiny E, vedoucí k abnormálnímu metabolismu lipidů a k akumulaci glykosfingolipidů, zejména sfingomyelinů v histiocytech. Tato porucha se projevuje splenomegalií a mořsko-modrými histiocyty ve slezině a kostní dřeni po barvení technikou May Grunwald.

A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

DUI
D012618 MeSH Prohlížeč
CUI
M0019573
Předchozí užití
Histiocytes (1966-1983)
Historická pozn.
1984
Veřejná pozn.
1984

C Nemoci
C10.228.140 nemoci mozku 1 186
C10.228.140.163 metabolické nemoci mozku 85
C10.228.140.163.100.435.825 sfingolipidózy 12
C10.228.140.163.100.435.825.200 Fabryho nemoc 193
C10.228.140.163.100.435.825.250 Farberova nemoc 5
C10.228.140.163.100.435.825.300 gangliosidóza 11
C10.228.140.163.100.435.825.400 Gaucherova nemoc 86
C10.228.140.163.100.435.825.590 globoidní leukodystrofie 17
C10.228.140.163.100.435.825.700 Niemannova-Pickova nemoc 36
C10.228.140.163.100.435.825.775 syndrom histiocytů barvy mořské modři 4
C10.228.140.163.100.435.825.850 sulfatidóza 1
C15.604.250 histiocytóza 68
C15.604.250.410.224 Erdheimova-Chesterova nemoc 39
C15.604.250.410.450 sinusová histiocytóza 21
C15.604.250.410.625 Niemannova-Pickova nemoc 36
C15.604.250.410.900 juvenilní xantogranulom 25
C16.320.565.189.435.825 sfingolipidózy 12
C16.320.565.189.435.825.200 Fabryho nemoc 193
C16.320.565.189.435.825.250 Farberova nemoc 5
C16.320.565.189.435.825.300 gangliosidóza 11
C16.320.565.189.435.825.400 Gaucherova nemoc 86
C16.320.565.189.435.825.590 globoidní leukodystrofie 17
C16.320.565.189.435.825.700 Niemannova-Pickova nemoc 36
C16.320.565.189.435.825.775 syndrom histiocytů barvy mořské modři 4
C16.320.565.189.435.825.850 sulfatidóza 1
C16.320.565.398.641 lipidózy 35
C16.320.565.398.641.803 sfingolipidózy 12
C16.320.565.398.641.803.300 Fabryho nemoc 193
C16.320.565.398.641.803.325 Farberova nemoc 5
C16.320.565.398.641.803.350 gangliosidóza 11
C16.320.565.398.641.803.441 Gaucherova nemoc 86
C16.320.565.398.641.803.585 globoidní leukodystrofie 17
C16.320.565.398.641.803.730 Niemannova-Pickova nemoc 36
C16.320.565.398.641.803.850 syndrom histiocytů barvy mořské modři 4
C16.320.565.398.641.803.925 sulfatidóza 1
C16.320.565.595.554.825 sfingolipidózy 12
C16.320.565.595.554.825.200 Fabryho nemoc 193
C16.320.565.595.554.825.250 Farberova nemoc 5
C16.320.565.595.554.825.300 gangliosidóza 11
C16.320.565.595.554.825.400 Gaucherova nemoc 86
C16.320.565.595.554.825.590 globoidní leukodystrofie 17
C16.320.565.595.554.825.700 Niemannova-Pickova nemoc 36
C16.320.565.595.554.825.775 syndrom histiocytů barvy mořské modři 4
C16.320.565.595.554.825.850 sulfatidóza 1
C18.452 metabolické nemoci 1 208
C18.452.132.100.435.825 sfingolipidózy 12
C18.452.132.100.435.825.200 Fabryho nemoc 193
C18.452.132.100.435.825.250 Farberova nemoc 5
C18.452.132.100.435.825.300 gangliosidóza 11
C18.452.132.100.435.825.400 Gaucherova nemoc 86
C18.452.132.100.435.825.590 globoidní leukodystrofie 17
C18.452.132.100.435.825.700 Niemannova-Pickova nemoc 36
C18.452.132.100.435.825.775 syndrom histiocytů barvy mořské modři 4
C18.452.132.100.435.825.850 sulfatidóza 1
C18.452.584.563.641 lipidózy 35
C18.452.584.563.641.803 sfingolipidózy 12
C18.452.584.563.641.803.300 Fabryho nemoc 193
C18.452.584.563.641.803.325 Farberova nemoc 5
C18.452.584.563.641.803.350 gangliosidóza 11
C18.452.584.563.641.803.441 Gaucherova nemoc 86
C18.452.584.563.641.803.585 globoidní leukodystrofie 17
C18.452.584.563.641.803.730 Niemannova-Pickova nemoc 36
C18.452.584.563.641.803.850 syndrom histiocytů barvy mořské modři 4
C18.452.584.563.641.803.925 sulfatidóza 1
C18.452.648.189.435.825 sfingolipidózy 12
C18.452.648.189.435.825.200 Fabryho nemoc 193
C18.452.648.189.435.825.250 Farberova nemoc 5
C18.452.648.189.435.825.300 gangliosidóza 11
C18.452.648.189.435.825.400 Gaucherova nemoc 86
C18.452.648.189.435.825.590 globoidní leukodystrofie 17
C18.452.648.189.435.825.700 Niemannova-Pickova nemoc 36
C18.452.648.189.435.825.775 syndrom histiocytů barvy mořské modři 4
C18.452.648.189.435.825.850 sulfatidóza 1
C18.452.648.398.641 lipidózy 35
C18.452.648.398.641.803 sfingolipidózy 12
C18.452.648.398.641.803.300 Fabryho nemoc 193
C18.452.648.398.641.803.325 Farberova nemoc 5
C18.452.648.398.641.803.350 gangliosidóza 11
C18.452.648.398.641.803.441 Gaucherova nemoc 86
C18.452.648.398.641.803.585 globoidní leukodystrofie 17
C18.452.648.398.641.803.730 Niemannova-Pickova nemoc 36
C18.452.648.398.641.803.850 syndrom histiocytů barvy mořské modři 4
C18.452.648.398.641.803.925 sulfatidóza 1
C18.452.648.595.554.825 sfingolipidózy 12
C18.452.648.595.554.825.200 Fabryho nemoc 193
C18.452.648.595.554.825.250 Farberova nemoc 5
C18.452.648.595.554.825.300 gangliosidóza 11
C18.452.648.595.554.825.400 Gaucherova nemoc 86
C18.452.648.595.554.825.590 globoidní leukodystrofie 17
C18.452.648.595.554.825.700 Niemannova-Pickova nemoc 36
C18.452.648.595.554.825.775 syndrom histiocytů barvy mořské modři 4
C18.452.648.595.554.825.850 sulfatidóza 1