Visningssätt för begreppens/termernas förhållanden:
Det sätt begreppsrelationer visas:
Det sätt begreppsrelationer visas:
Galaktosemier
Hierarki: | ∟ ∟ ∟ ∟ ∟ Galaktosemier 35 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Galaktosemier 35 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Galaktosemier 35 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Galaktosemier 35 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Galaktosemier 35 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Galaktosemier 35 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ Galaktosemier ∟ ∟ ∟ ∟ ∟ Galaktosemier ∟ ∟ ∟ ∟ ∟ ∟ Galaktosemier ∟ ∟ ∟ ∟ ∟ Galaktosemier ∟ ∟ ∟ ∟ ∟ Galaktosemier ∟ ∟ ∟ ∟ ∟ Galaktosemier |
Anmärkning: | A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (OVARIAN FAILURE, PREMATURE); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
X |
historyNote*: | 2000(1966)
X |
publicMeSHNote*: | 2000; see GALACTOSEMIA 1966-1999
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1999-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
Relaterad term: | |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Galaktosemiat (fi) XGalaktoosiverisyys (fi, ersatt) Galaktosemia (fi, ersatt) Galactosemias (en) UTP Hexose-1-Phosphate Uridylyltransferase Deficiency (en, ersatt) UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency (en, ersatt) UDP-Galactose-4-Epimerase Deficiency Disease (en, ersatt) Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase (en, ersatt) Deficiency Disease, UDP-Galactose-4-Epimerase (en, ersatt) Deficiency Disease, UDPglucose 4-Epimerase (en, ersatt) Galactosemia, Classic (en, ersatt) Deficiency Disease, Galactokinase (en, ersatt) Galactosaemia (la-FI, ersatt) |
Dela: |
Laddar resultat...