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Det sätt begreppsrelationer visas:
Williams syndrom
Hierarki: | ∟ ∟ ∟ ∟ Williams syndrom 13 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams syndrom 13 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams syndrom 13 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams syndrom 13 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams syndrom 13 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams syndrom 13 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams syndrom 13 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | ∟ ∟ ∟ ∟ Williams syndrom ∟ ∟ ∟ ∟ ∟ ∟ Williams syndrom ∟ ∟ ∟ ∟ Williams syndrom ∟ ∟ ∟ ∟ Williams syndrom ∟ ∟ ∟ ∟ ∟ Williams syndrom ∟ ∟ ∟ ∟ ∟ ∟ Williams syndrom ∟ ∟ ∟ ∟ Williams syndrom |
Anmärkning: | Aortic Valve Stenosis (1969-1995)X |
Anmärkning: | A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS, SUPRAVALVULAR), MENTAL RETARDATION, elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy.
X |
Annotation: | do not confuse with Williams-Campbell syndrome, congen bronchomalacia causing bronchiectasis
X |
historyNote*: | 96
X |
publicMeSHNote*: | 96
X |
activeMeSHYear*: | |
dateCreated*: | 1995-05-24X |
dateEstablished*: | 1996-01-01X |
dateRevised*: | 2001-07-25X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | nnsX |
recordOriginator*: | TGCX |
Relaterad term: | |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Williamsin oireyhtymä (fi) XWilliamsin syndrooma (fi, ersatt) Elfin face syndrom (sv, ersatt) William-Beurens syndrom (sv, ersatt) Williams Syndrome (en) Williams-Beuren Syndrome (en, ersatt) Elfin Facies Syndrome (en, ersatt) Williams Contiguous Gene Syndrome (en, ersatt) Contiguous Gene Syndrome, Williams (en, ersatt) Syndroma Williams (la-FI, ersatt) |
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