ONKI3 | Medical Subject Headings

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The way property values are displayed: value/row values side by side

The way concept relations are shown: separately in hierarchy

Xanthomatosis, Cerebrotendinous

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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 ∟ Xanthomatosis, Cerebrotendinous 9 coordinate concepts ∟ Hyperlipidemia, Familial Combined \| ∟ Hyperlipoproteinemia Type I \| ∟ Hyperlipoproteinemia Type II \| ∟ Hyperlipoproteinemia Type III \| ∟ Hyperlipoproteinemia Type IV \| ∟ Hyperlipoproteinemia Type V \| ∟ Hypolipoproteinemias \| ∟ Lipidoses \| ∟ Smith-Lemli-Opitz Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Xanthomatosis ∟ Xanthomatosis, Cerebrotendinous 9 coordinate concepts ∟ Hyperlipidemia, Familial Combined \| ∟ Hyperlipoproteinemia Type I \| ∟ Hyperlipoproteinemia Type II \| ∟ Hyperlipoproteinemia Type III \| ∟ Hyperlipoproteinemia Type IV \| ∟ Hyperlipoproteinemia Type V \| ∟ Hypolipoproteinemias \| ∟ Lipidoses \| ∟ Smith-Lemli-Opitz Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Xanthomatosis, Cerebrotendinous 9 coordinate concepts ∟ Hyperlipidemia, Familial Combined \| ∟ Hyperlipoproteinemia Type I \| ∟ Hyperlipoproteinemia Type II \| ∟ Hyperlipoproteinemia Type III \| ∟ Hyperlipoproteinemia Type IV \| ∟ Hyperlipoproteinemia Type V \| ∟ Hypolipoproteinemias \| ∟ Lipidoses \| ∟ Smith-Lemli-Opitz Syndrome X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Xanthomatosis, Cerebrotendinous Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Xanthomatosis ∟ Xanthomatosis, Cerebrotendinous Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Xanthomatosis, Cerebrotendinous Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Xanthomatosis > Lipid Metabolism Disorders > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
History note:	Xanthomatosis (1968-1996)X
historyNote*:	97 X
publicMeSHNote*:	97 X
Scope note:	An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27-hydroxylase. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms. X
activeMeSHYear*:	2007X
dateCreated*:	1996-06-10X
dateEstablished*:	1997-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	TGCX
Type:	Concept X
Coordinate terms:	Hyperlipidemia, Familial Combined \| Hyperlipoproteinemia Type I \| Hyperlipoproteinemia Type II \| Hyperlipoproteinemia Type III \| Hyperlipoproteinemia Type IV \| Hyperlipoproteinemia Type V \| Hypolipoproteinemias \| Lipidoses \| Smith-Lemli-Opitz Syndrome X
URI:	X
Labels and equivalent concepts:	Serebrotendinoosinen ksantomatoosi (fi) Serebrotendinoosi ksantomatoosi (fi, replaced) Kolestanoloosi (fi, replaced) Van Bogaert-Scherer-Epstein Disease (en, replaced) Cerebrotendinous Xanthomatosis (en, replaced) Xanthomatosis cerebrotendinosus (la-FI, replaced) X
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