| Descriptor English: | Williams Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Williams
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| Descriptor Portuguese: | Síndrome de Williams | ||||||
| Descriptor French: | Syndrome de Williams | ||||||
| Entry term(s): |
Aortic Stenoses, Hypercalcemia-Supravalvar Aortic Stenosis, Hypercalcemia-Supravalvar Beuren Syndrome Chromosome 7q11.23 Deletion Syndrome Contiguous Gene Syndrome, Williams Hypercalcemia Supravalvar Aortic Stenosis Hypercalcemia-Supravalvar Aortic Stenoses Hypercalcemia-Supravalvar Aortic Stenosis Stenoses, Hypercalcemia-Supravalvar Aortic Stenosis, Hypercalcemia-Supravalvar Aortic Supravalvar Aortic Stenosis Syndrome Syndrome, Beuren Syndrome, Williams Syndrome, Williams-Beuren Williams Beuren Syndrome Williams Contiguous Gene Syndrome Williams-Beuren Syndrome |
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| Tree number(s): |
C10.597.606.360.970 C14.280.484.048.750.535.960 C16.131.260.970 C16.320.180.970 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D018980 | ||||||
| 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. |
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| Annotation: | do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Aortic Valve Stenosis (1969-1995) |
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| Public MeSH Note: | 96 |
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| History Note: | 96 |
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| Related: |
Elastin
MeSH Intellectual Disability MeSH | ||||||
| DeCS ID: | 32574 | ||||||
| Unique ID: | D018980 | ||||||
| NLM Classification: | QS 677 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1996/01/01 | ||||||
| Date of Entry: | 1995/05/24 | ||||||
| Revision Date: | 2018/06/30 |
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Williams Syndrome
- Preferred
| 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. |
| Preferred term | Williams Syndrome |
| Entry term(s) |
Aortic Stenoses, Hypercalcemia-Supravalvar Aortic Stenosis, Hypercalcemia-Supravalvar Beuren Syndrome Chromosome 7q11.23 Deletion Syndrome Contiguous Gene Syndrome, Williams Hypercalcemia Supravalvar Aortic Stenosis Hypercalcemia-Supravalvar Aortic Stenoses Hypercalcemia-Supravalvar Aortic Stenosis Stenoses, Hypercalcemia-Supravalvar Aortic Stenosis, Hypercalcemia-Supravalvar Aortic Supravalvar Aortic Stenosis Syndrome Syndrome, Beuren Syndrome, Williams Syndrome, Williams-Beuren Williams Beuren Syndrome Williams Contiguous Gene Syndrome Williams-Beuren Syndrome |
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