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Gaucher Disease
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gaucher Disease |
historyNote*: | 2000(1966)
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publicMeSHNote*: | 2000; see GAUCHER'S DISEASE 1966-1999; for GAUCHER DISEASE see GAUCHER'S DISEASE 1966-1999
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Scope note: | An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the RETICULOENDOTHELIAL SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
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activeMeSHYear*: | 2007X |
dateCreated*: | 1999-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
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Labels and equivalent concepts: | Gaucherin tauti (fi) XSerebrosidoosi (fi, replaced) Serebrosidilipidoosi (fi, replaced) Gauchers sjukdom (sv) Subacute Neuronopathic Gaucher Disease (en, replaced) Non-Neuronopathic Gaucher Disease (en, replaced) Infantile Gaucher Disease (en, replaced) Glucosylceramide Beta-Glucosidase Deficiency Disease (en, replaced) Type 1 Gaucher Disease (en, replaced) Type 2 Gaucher Disease (en, replaced) Type 3 Gaucher Disease (en, replaced) Glucocerebrosidase Deficiency Disease (en, replaced) Gaucher's Disease (en, replaced) Gaucher Disease, Acute Neuronopathic (en, replaced) Chronic Gaucher Disease (en, replaced) Cerebroside Lipidosis Syndrome (en, replaced) Acute Neuronopathic Gaucher Disease (en, replaced) Gaucher Disease, Chronic (en, replaced) Gaucher Disease, Infantile (en, replaced) Gaucher Disease, Subacute Neuronopathic Form (en, replaced) Gaucher Disease, Non-Neuronopathic Form (en, replaced) Gaucher Disease, Neuronopathic (en, replaced) Gaucher Disease, Juvenile (en, replaced) Acid beta-Glucosidase Deficiency Disease (en, replaced) Morbus Gaucher (la-FI, replaced) |
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