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Descriptor English: Cholesterol Ester Storage Disease
Descriptor Spanish: Enfermedad de Acumulación de Colesterol Éster
Descriptor enfermedad por acumulación de ésteres de colesterol
Scope note: Trastorno autosómico recesivo causado por mutaciones del gen de la lipasa ácida (ESTEROL ESTERASA). Se caracteriza por la acumulación de lípidos neutros, particularmente ÉSTERES DE COLESTEROL, en los leucocitos, fibroblastos y hepatocitos.
Descriptor Portuguese: Doença do Armazenamento de Colesterol Éster
Descriptor French: Maladie de stockage des esters de cholestérol
Entry term(s): Cholesteryl Ester Storage Disease
Tree number(s): C16.320.565.398.641.201
C16.320.565.595.201
C18.452.584.563.641.201
C18.452.648.398.641.201
C18.452.648.595.201
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D015217
Scope note: An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Cholesterol Esters (1978-1988)
Lipase (1966-1988)
Lipid Metabolism, Inborn Errors (1966-1988)
Lipoidosis (1966-1988)
Public MeSH Note: 89
History Note: 89
Entry Version: CHOLESTEROL ESTER STORAGE DIS
Related: Sterol Esterase MeSH
DeCS ID: 23586
Unique ID: D015217
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1989/01/01
Date of Entry: 1988/05/11
Revision Date: 2013/07/08
Cholesterol Ester Storage Disease - Preferred
Concept UI M0023379
Scope note An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
Preferred term Cholesterol Ester Storage Disease
Entry term(s) Cholesteryl Ester Storage Disease



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