Počet záznamov: 1
Gaucherova choroba
Č. záznamu d005776 Dátum 06.06.2025 Typ M - MESH Tematický termín Gaucherova choroba Iný termín Angličtina (Pseudonym) Cerebroside Lipidosis Syndrome
Angličtina (Pseudonym) Gaucher Disease Type 1
Angličtina (Pseudonym) Gaucher Disease Type 2
Angličtina (Pseudonym) Glucocerebrosidase Deficiency Disease
Angličtina (Pseudonym) Glucosylceramide Beta-Glucosidase Deficiency Disease
Angličtina (Pseudonym) Neuronopathic Gaucher Disease
Slovenčina (Pseudonym) syndróm cerebrozidovej lipidózy
Slovenčina (Pseudonym) choroba z deficitu glukocerebrozidázy
Slovenčina (Pseudonym) choroba z deficitu glukozylceramidbetaglukozidázy
Slovenčina (Pseudonym) Gaucherova choroba neuronopatická
Slovenčina (Pseudonym) Gaucherova choroba, typ 1
Slovenčina (Pseudonym) Gaucherova choroba, typ 2
Slovenčina (Pseudonym) Gaucherova choroba, typ 3
Slovenčina (Pseudonym) Gaucherova splenomegália
Slovenčina (Pseudonym) deficit glukocerebrozidázy
Slovenčina (Pseudonym) glukocerebrozidóza
Slovenčina (Pseudonym) deficit glukozylceramidázy
Slovenčina (Pseudonym) deficit glukozylceramid beta-glukozidázy
Slovenčina (Pseudonym) lipidóza glukozylceramidová
Slovenčina (Pseudonym) histiocytóza kerazínová
Slovenčina (Pseudonym) lipoidóza kerazínová
Slovenčina (Pseudonym) tezaurizmóza kerazínová
Slovenčina (Pseudonym) Gaucherova choroba, neuropatická forma
Slovenčina (Pseudonym) Gaucherova choroba, subakútna neuropatická forma
Slovenčina (Pseudonym) Gaucherova choroba, non-neuropatická forma
Pozri tiež (Skutočné meno) glukozylceramidáza
(Novšie záhlavie) glukozylceramidáza
MDT C10.228.140.163.100.435.825.400C16.320.565.189.435.825.400C16.320.565.398.641.803.441C16.320.565.595.554.825.400C18.452.132.100.435.825.400C18.452.584.563.641.803.441C18.452.648.189.435.825.400C18.452.648.398.641.803.441C18.452.648.595.554.825.400 Poznámka An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. 
predmetové heslo
Počet záznamov: 1