ONKI3 | Medical Subject Headings

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Cholesterol Ester Storage Disease

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Cholesterol Ester Storage Disease 7 coordinate concepts 1 subordinate concept ∟ Wolman Disease ∟ Cystinosis \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucopolysaccharidoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Sjogren-Larsson Syndrome \| ∟ Sphingolipidoses Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Cholesterol Ester Storage Disease 7 coordinate concepts 1 subordinate concept ∟ Wolman Disease ∟ Cystinosis \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucopolysaccharidoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Sjogren-Larsson Syndrome \| ∟ Sphingolipidoses Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Lipidoses ∟ Cholesterol Ester Storage Disease 7 coordinate concepts 1 subordinate concept ∟ Wolman Disease ∟ Cystinosis \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucopolysaccharidoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Sjogren-Larsson Syndrome \| ∟ Sphingolipidoses Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Cholesterol Ester Storage Disease 7 coordinate concepts 1 subordinate concept ∟ Wolman Disease ∟ Cystinosis \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucopolysaccharidoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Sjogren-Larsson Syndrome \| ∟ Sphingolipidoses Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Cholesterol Ester Storage Disease 7 coordinate concepts 1 subordinate concept ∟ Wolman Disease ∟ Cystinosis \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucopolysaccharidoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Sjogren-Larsson Syndrome \| ∟ Sphingolipidoses X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Cholesterol Ester Storage Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Cholesterol Ester Storage Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Lipidoses ∟ Cholesterol Ester Storage Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Cholesterol Ester Storage Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Cholesterol Ester Storage Disease Lipidoses > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Lysosomal Storage Diseases > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Lipidoses > Lipid Metabolism Disorders > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Lipidoses > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Lysosomal Storage Diseases > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Narrower terms:	Wolman Disease X
History note:	Cholesterol Esters (1978-1988) \| Lipase (1966-1988) \| Lipid Metabolism, Inborn Errors (1966-1988) \| Lipoidosis (1966-1988)X
historyNote*:	89 X
publicMeSHNote*:	89 X
Scope note:	An autosomal recessive disorder caused by mutations in the gene for acid lipase (CHOLESTEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. X
activeMeSHYear*:	2007X
dateCreated*:	1988-05-11X
dateEstablished*:	1989-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	EJBX
Related term:	Cholesterol Esterase X
Type:	Concept X
Coordinate terms:	Cystinosis \| Lysosomal Storage Diseases, Nervous System \| Mannosidase Deficiency Diseases \| Mucopolysaccharidoses \| Neuronal Ceroid-Lipofuscinoses \| Sjogren-Larsson Syndrome \| Sphingolipidoses X
URI:	X
Labels and equivalent concepts:	Kolesteroliesterien varastoitumissairaus (fi) Kolesterolesterlagringsdefekt (sv) Cholesteryl Ester Storage Disease (en, replaced) X
Share:	X