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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Williams Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Williams Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Williams Syndrome
Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Williams Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Williams Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Williams Syndrome
... > Cardiovascular Diseases > Heart Diseases > Ventricular Outflow Obstruction > Aortic Valve Stenosis > Aortic Stenosis, Supravalvular > Williams Syndrome
... > Cardiovascular Diseases > Heart Diseases > Heart Valve Diseases > Aortic Valve Disease > Aortic Valve Stenosis > Aortic Stenosis, Supravalvular > Williams Syndrome

Preferred term

Williams Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Aortic Stenoses, Hypercalcemia-Supravalvar
  • Aortic Stenosis, Hypercalcemia-Supravalvar
  • Beuren Syndrome
  • Chromosome 7q11.23 Deletion Syndrome
  • Contiguous Gene Syndrome, Williams
  • Hypercalcemia-Supravalvar Aortic Stenoses
  • Hypercalcemia Supravalvar Aortic Stenosis
  • Hypercalcemia-Supravalvar Aortic Stenosis
  • Stenoses, Hypercalcemia-Supravalvar Aortic
  • Stenosis, Hypercalcemia-Supravalvar Aortic
  • Supravalvar Aortic Stenosis Syndrome
  • Syndrome, Beuren
  • Syndrome, Williams-Beuren
  • Williams Beuren Syndrome
  • Williams-Beuren Syndrome
  • Williams Contiguous Gene Syndrome

Note

  • do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency

Scope note

  • A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; 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.

History note

  • 96

In other languages

URI

http://www.yso.fi/onto/mesh/D018980

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