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Williams Syndrome
Hierarchy: | ∟ ∟ ∟ ∟ Williams Syndrome 13 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams Syndrome 13 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams Syndrome 13 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams Syndrome 13 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams Syndrome 13 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams Syndrome 13 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Williams Syndrome 13 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | ∟ ∟ ∟ ∟ Williams Syndrome ∟ ∟ ∟ ∟ ∟ ∟ Williams Syndrome ∟ ∟ ∟ ∟ Williams Syndrome ∟ ∟ ∟ ∟ Williams Syndrome ∟ ∟ ∟ ∟ Williams Syndrome ∟ ∟ ∟ ∟ ∟ Williams Syndrome ∟ ∟ ∟ ∟ ∟ ∟ Williams Syndrome |
Annotation: | do not confuse with Williams-Campbell syndrome, congen bronchomalacia causing bronchiectasis
X |
History note: | Aortic Valve Stenosis (1969-1995)X |
historyNote*: | 96
X |
publicMeSHNote*: | 96
X |
Scope note: | 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 |
activeMeSHYear*: | |
dateCreated*: | 1995-05-24X |
dateEstablished*: | 1996-01-01X |
dateRevised*: | 2001-07-25X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | nnsX |
recordOriginator*: | TGCX |
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Labels and equivalent concepts: | Williamsin oireyhtymä (fi) XWilliams-Beuren Syndrome (en, replaced) Williams Contiguous Gene Syndrome (en, replaced) Elfin Facies Syndrome (en, replaced) Contiguous Gene Syndrome, Williams (en, replaced) Síndrome de Williams (es) Williams-Syndrom (de) Williamsův-Beurenův syndrom (cs) Síndrome de Facie de Duende (es, replaced) Síndrome de Williams de Gen Contiguo (es, replaced) Williams-Beuren-Syndrom (de, replaced) Elfengesicht-Syndrom (de, replaced) |
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