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mukolipidózy
Č. záznamu d009081 Dátum 06.06.2025 Typ M - MESH Tematický termín mukolipidózy Iný termín Angličtina (Pseudonym) Cherry Red Spot Myoclonus Syndrome
Angličtina (Pseudonym) Ganglioside Sialidase Deficiency Disease
Angličtina (Pseudonym) I-Cell Disease
Angličtina (Pseudonym) Lipomucopolysaccharidosis
Angličtina (Pseudonym) Mucolipidosis
Angličtina (Pseudonym) Myoclonus Cherry Red Spot Syndrome
Angličtina (Pseudonym) Pseudo-Hurler Polydystrophy
Angličtina (Pseudonym) Sialidosis
Slovenčina (Pseudonym) mukolipidóza
Slovenčina (Pseudonym) choroba I-buniek
Slovenčina (Pseudonym) mukolipidóza I
Slovenčina (Pseudonym) mukolipidóza II
Slovenčina (Pseudonym) sialidóza
Slovenčina (Pseudonym) lipomukopolysacharidóza
Slovenčina (Pseudonym) syndróm myoklonický, s čerešňovočervenou škvrnou na očnom pozadí
Slovenčina (Pseudonym) choroba z deficitu gangliozidsialidázy
Slovenčina (Pseudonym) pseudo-Hurlerova polydystrofia
Pozri tiež (Novšie záhlavie) gangliozidózy
(Skutočné meno) gangliozidózy
MDT C05.116.198.371C10.228.140.163.100.435.590C16.320.565.189.435.590C16.320.565.202.670C16.320.565.595.554.590C18.452.132.100.435.590C18.452.648.189.435.590C18.452.648.202.670C18.452.648.595.554.590 Poznámka A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) 
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