MeSH Browser

MeSH Heading: Williams Syndrome
Tree Number(s): C10.597.606.360.970; C14.280.484.048.750.535.960; C16.131.260.970; C16.320.180.970
Unique ID: D018980
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D018980
Annotation: 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.
Entry Term(s): Beuren Syndrome; Chromosome 7q11.23 Deletion Syndrome; Contiguous Gene Syndrome, Williams; Hypercalcemia-Supravalvar Aortic Stenosis; Supravalvar Aortic Stenosis Syndrome; Williams Contiguous Gene Syndrome; Williams-Beuren Syndrome
Previous Indexing: Aortic Valve Stenosis (1969-1995)
See Also: Elastin; Intellectual Disability
Public MeSH Note: 96
History Note: 96
Date Established: 1996/01/01
Date of Entry: 1995/05/24
Revision Date: 2020/02/28

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0028351
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.
Terms: Williams Syndrome Preferred Term
Term UI T056590
Date01/01/1999
LexicalTag EPO
ThesaurusID; Hypercalcemia-Supravalvar Aortic Stenosis
Term UI T842690
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Supravalvar Aortic Stenosis Syndrome
Term UI T842692
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Contiguous Gene Syndrome, Williams
Term UI T369868
Date11/08/1999
LexicalTag EPO
ThesaurusID NLM (2000); Williams Contiguous Gene Syndrome
Term UI T369869
Date11/08/1999
LexicalTag EPO
ThesaurusID NLM (2000); Chromosome 7q11.23 Deletion Syndrome
Term UI T812078
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Beuren Syndrome
Term UI T842688
Date04/18/2013
LexicalTag EPO
ThesaurusID GHR (2014); Williams-Beuren Syndrome
Term UI T056591
Date12/09/1994
LexicalTag EPO
ThesaurusID

Williams Syndrome MeSH Descriptor Data 2025