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Mukopolysackaridos I
Hierarki: | ∟ ∟ ∟ ∟ ∟ Mukopolysackaridos I 5 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Mukopolysackaridos I 5 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Mukopolysackaridos I 5 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Mukopolysackaridos I 5 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Mukopolysackaridos I 5 sidobegrepp∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ Mukopolysackaridos I ∟ ∟ ∟ ∟ ∟ ∟ Mukopolysackaridos I ∟ ∟ ∟ ∟ ∟ ∟ Mukopolysackaridos I ∟ ∟ ∟ ∟ ∟ ∟ Mukopolysackaridos I ∟ ∟ ∟ ∟ ∟ ∟ Mukopolysackaridos I |
Anmärkning: | Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.
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Annotation: | DF: MPS I
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historyNote*: | 92; was LIPOCHONDRODYSTROPHY 1966-91; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, was see under MUCOPOLYSACCHARIDOSIS 1975-90; MUCOPOLYSACCHARIDOSIS 1 was see LIPOCHONDRODYSTROPHY 1976-91; HURLER'S DISEASE was see LIPOCHONDRODYSTROPHY 1975-91; SCHEIE'S SYNDROME was see MUCOPOLYSACCHARIDOSIS 5 1975-91;
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onlineNote*: | use MUCOPOLYSACCHARIDOSIS I to search LIPOCHONDRODYSTROPHY 1966-91, MUCOPOLYSACCHARIDOSIS 5 1975-91, MUCOPOLYSACCHARIDOSIS 1 1976-91, HURLER'S DISEASE & SCHEIE'S DISEASE 1975-91
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publicMeSHNote*: | 92; was LIPOCHONDRODYSTROPHY 1966-91; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, was see under MUCOPOLYSACCHARIDOSIS 1975-90; MUCOPOLYSACCHARIDOSIS 1 was see LIPOCHONDRODYSTROPHY 1976-91; HURLER'S DISEASE was see LIPOCHONDRODYSTROPHY 1975-91; SCHEIE'S SYNDROME was see MUCOPOLYSACCHARIDOSIS 5 1975-91
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activeMeSHYear*: | 2007X |
dateCreated*: | 1999-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | nnsX |
recordOriginator*: | NLMX |
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Termer och motsvarande begrepp: | Mukopolysakkaridoosi I (fi) XHurler-Scheien oireyhtymä (fi, ersatt) Hurler-Scheien syndrooma (fi, ersatt) Scheies syndrom (sv, ersatt) MPS I (sv, ersatt) Hurlers syndrom (sv, ersatt) Hurler-Scheies syndrom (sv, ersatt) Mucopolysaccharidosis I (en) Scheie's Syndrome (en, ersatt) Pfaundler-Hurler Syndrome (en, ersatt) Mucopolysaccharidosis V (en, ersatt) Mucopolysaccharidosis IS (en, ersatt) Mucopolysaccharidosis I-S (en, ersatt) MPS I H (en, ersatt) Lipochondrodystrophy (en, ersatt) Hurler's Syndrome (en, ersatt) Hurler's Disease (en, ersatt) MPS I H-S (en, ersatt) MPS I S (en, ersatt) Mucopolysaccharidosis 5 (en, ersatt) Mucopolysaccharidosis 1 (en, ersatt) MPS I-S (en, ersatt) Hurler Disease (en, ersatt) Mucopolysaccharidosis I (la-FI, ersatt) |
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