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Serebrotendinoosinen ksantomatoosi
Hierarki: | ∟ ∟ ∟ ∟ ∟ Serebrotendinoosinen ksantomatoosi 9 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Serebrotendinoosinen ksantomatoosi 9 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Serebrotendinoosinen ksantomatoosi 9 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ Serebrotendinoosinen ksantomatoosi ∟ ∟ ∟ ∟ ∟ Serebrotendinoosinen ksantomatoosi ∟ ∟ ∟ ∟ ∟ Serebrotendinoosinen ksantomatoosi |
Anmärkning: | Xanthomatosis (1968-1996)X |
Anmärkning: | 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 |
historyNote*: | 97
X |
publicMeSHNote*: | 97
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1996-06-10X |
dateEstablished*: | 1997-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | TGCX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Serebrotendinoosi ksantomatoosi (fi, ersatt) XKolestanoloosi (fi, ersatt) Xanthomatosis, Cerebrotendinous (en) Van Bogaert-Scherer-Epstein Disease (en, ersatt) Cerebrotendinous Xanthomatosis (en, ersatt) Xanthomatosis cerebrotendinosus (la-FI, ersatt) |
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