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Niemannove-Pickove choroby
Č. záznamu d009542 Dátum 06.06.2025 Typ M - MESH Tematický termín Niemannove-Pickove choroby Iný termín Angličtina (Pseudonym) Acid Sphingomyelinase Deficiency
Angličtina (Pseudonym) Acid Sphingomyelinase-Deficient Niemann-Pick Disease
Angličtina (Pseudonym) ASM Deficiency
Angličtina (Pseudonym) ASM-Deficient Niemann-Pick Disease
Angličtina (Pseudonym) Niemann-Pick Disease
Slovenčina (Pseudonym) Niemannova-Pickova choroba
Slovenčina (Pseudonym) Niemann-Pickova choroba
Slovenčina (Pseudonym) deficit kyslej sfingomyelinázy
Slovenčina (Pseudonym) deficit ASM
Slovenčina (Pseudonym) ASM deficientná Niemannova-Pickova choroba
Slovenčina (Pseudonym) Niemannova-Pickova choroba s deficitom kyslej sfingomyelinázy
Pozri tiež (Skutočné meno) syndróm modrých histiocytov
(Skutočné meno) sfingomyelínfosfodiesteráza
(Novšie záhlavie) syndróm modrých histiocytov
(Novšie záhlavie) sfingomyelínfosfodiesteráza
MDT C10.228.140.163.100.435.825.700C15.604.250.410.625C16.320.565.189.435.825.700C16.320.565.398.641.803.730C16.320.565.595.554.825.700C18.452.132.100.435.825.700C18.452.584.563.641.803.730C18.452.648.189.435.825.700C18.452.648.398.641.803.730C18.452.648.595.554.825.700 Poznámka 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. 
predmetové heslo
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