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Glycogen Storage Disease Type I
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type I 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type I 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | |
Annotation: | do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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historyNote*: | 89; was GLUCOSEPHOSPHATASE DEFICIENCY 1964-88 (Prov 1964); VON GIERKE'S DISEASE was see GLYCOGENOSIS 1963-64
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onlineNote*: | use GLYCOGEN STORAGE DISEASE TYPE I to search GLUCOSEPHOSPHATASE DEFICIENCY 1966-88
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publicMeSHNote*: | 89; was GLUCOSEPHOSPHATASE DEFICIENCY 1964-88 (Prov 1964); VON GIERKE'S DISEASE was see GLYCOGENOSIS 1963-64
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Scope note: | An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
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activeMeSHYear*: | 2007X |
dateCreated*: | 1999-01-01X |
dateEstablished*: | 1965-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
Type: | |
Coordinate terms: | |
URI: | |
Labels and equivalent concepts: | Glykogenoosi I (fi) XTyyppi I glykogenoosi (fi, replaced) Tyyppi I dekstrinoosi (fi, replaced) Tyypin I glykogenoosi (fi, replaced) Tyypin I dekstrinoosi (fi, replaced) Von Gierken tauti (fi, replaced) Glykogenoosi tyyppi I (fi, replaced) Dekstrinoosi tyyppi I (fi, replaced) Dekstrinoosi I (fi, replaced) Glykogenupplagringssjukdom typ I (sv) Glykogenos 1 (sv, replaced) Glukosfosfatasbrist (sv, replaced) Glukos-6-fosfatasbrist (sv, replaced) Glucosephosphatase Deficiency (en, replaced) Glucose-6-Phosphatase Deficiency (en, replaced) Gierke's Disease (en, replaced) Gierke Disease (en, replaced) Glycogenosis 1 (en, replaced) Hepatorenal Glycogen Storage Disease (en, replaced) Von Gierke's Disease (en, replaced) Von Gierke Disease (en, replaced) Deficiency, Glucosephosphatase (en, replaced) Morbus von Gierke (la-FI, replaced) |
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