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Descriptor English: Mucolipidoses
Descriptor Spanish: Mucolipidosis
Descriptor mucolipidosis
Entry term(s) enfermedad de las células I
enfermedad por deficiencia de gangliósido sialidasa
lipomucopolisacaridosis
polidistrofia seudo-Hurler
sialidosis
Scope note: Grupo de enfermedades metabólicas hereditarias caracterizadas por depósito de cantidades excesivas de mucopolisacáridos ácidos, esfingolípidos, y/o glucolípidos en las células viscerales o mesenquimatosas. En el tejido nervioso hay cantidades anormales de esfingolípidos o glucolípidos. Con frecuencia existe DISCAPACIDAD INTELECTUAL y lesiones esqueléticas, principalmente disostosis múltiple. (Traducción libre del original: Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Descriptor Portuguese: Mucolipidoses
Descriptor French: Mucolipidoses
Entry term(s): Déficit en N-acétylglucosamine-1-phosphotransférase
Déficit en neuraminidase
Lipomucopolysaccharidose
Maladie des cellules à inclusions
Mucolipidose I
Mucolipidose II
Mucolipidose III
Mucolipidose IV
Mucolipidose de type 1
Mucolipidose de type 2
Mucolipidose de type 3
Mucolipidose de type 4
Mucolipidose de type I
Mucolipidose de type II
Mucolipidose de type III
Mucolipidose de type IV
Pseudo-polydystrophie de Hurler
Sialidose
Tree number(s): C05.116.198.371
C10.228.140.163.100.435.590
C16.320.565.189.435.590
C16.320.565.202.670
C16.320.565.595.554.590
C18.452.132.100.435.590
C18.452.648.189.435.590
C18.452.648.202.670
C18.452.648.595.554.590
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D009081
Scope note: 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)
Allowable Qualifiers: BL sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
CO complications
DG imagerie diagnostique
DH diétothérapie
DI diagnostic
DT traitement médicamenteux
EC économie
EH ethnologie
EM embryologie
EN enzymologie
EP épidémiologie
ET étiologie
GE génétique
HI histoire
IM immunologie
ME métabolisme
MI microbiologie
MO mortalité
NU soins infirmiers
PA anatomopathologie
PC prévention et contrôle
PP physiopathologie
PS parasitologie
PX psychologie
RH rééducation et réadaptation
RT radiothérapie
SU chirurgie
TH thérapie
UR urine
VE médecine vétérinaire
VI virologie
Related: Gangliosidoses MeSH
DeCS ID: 9273
Unique ID: D009081
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1977/01/01
Date of Entry: 1976/05/19
Revision Date: 2016/02/26
Mucolipidoses - Preferred
Concept UI M0014165
Preferred term Mucolipidoses
Mucolipidose de type I - Narrower
Concept UI M0335702
Preferred term Mucolipidose de type I
Entry term(s) Déficit en neuraminidase
Mucolipidose I
Mucolipidose de type 1
Sialidose
Mucolipidose de type III - Narrower
Concept UI M0335704
Preferred term Mucolipidose de type III
Entry term(s) Mucolipidose III
Mucolipidose de type 3
Pseudo-polydystrophie de Hurler
Mucolipidose de type IV - Narrower
Concept UI M0335703
Preferred term Mucolipidose de type IV
Entry term(s) Mucolipidose IV
Mucolipidose de type 4
Lipomucopolysaccharidose - Narrower
Concept UI M0014164
Preferred term Lipomucopolysaccharidose
Mucolipidose de type II - Narrower
Concept UI M0014163
Preferred term Mucolipidose de type II
Entry term(s) Déficit en N-acétylglucosamine-1-phosphotransférase
Maladie des cellules à inclusions
Mucolipidose II
Mucolipidose de type 2



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