Skip to main content

Medical Subject Headings (thesaurus)

Search from vocabulary

align
annotate
download

Concept information

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
Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Williams Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > 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 > Heart Valve Diseases > Aortic Valve Disease > Aortic Valve Stenosis > Aortic Stenosis, Supravalvular > Williams Syndrome
... > Cardiovascular Diseases > Heart Diseases > Ventricular Outflow Obstruction > Aortic Valve Stenosis > Aortic Stenosis, Supravalvular > Williams Syndrome

Preferred term

Williams Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Related concepts

Synonym(s)

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

Allowable Qualifier(s)

In other languages

  • Syndrome de Williams

    French

  • Syndrome de délétion chromosomique 7q11.23
  • Syndrome de la face d'elfe
  • Syndrome de Williams et Beuren
  • Syndrome de Williams-Beuren
  • Syndrome des gènes contigus de Williams
  • Syndrome du faciès d'elfe

URI

http://data.loterre.fr/ark:/67375/JVR-X1MQPRW0-7

Download this concept:

RDF/XML TURTLE JSON-LD Created 5/24/95, last modified 2/28/20