williams syndrome

Preferred Label : williams syndrome;

MeSH 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.;

MeSH synonym : williams contiguous gene syndrome; syndrome, williams-beuren; syndrome, williams; contiguous gene syndrome, williams; williams-beuren syndrome; williams beuren syndrome; chromosome 7q11.23 deletion syndrome; supravalvar aortic stenosis syndrome; beuren syndrome; syndrome, beuren; Hypercalcemia-Supravalvar aortic stenosis; aortic stenoses, Hypercalcemia-Supravalvar; aortic stenosis, Hypercalcemia-Supravalvar; hypercalcemia supravalvar aortic stenosis; Hypercalcemia-Supravalvar aortic stenoses; stenoses, Hypercalcemia-Supravalvar aortic; stenosis, Hypercalcemia-Supravalvar aortic;

CISMeF synonym : Beuren; Williams; williams's syndrome; elfin facies syndrome; elfin facies syndromes; syndrome, elfin facies;

MeSH annotation : do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency;

Wikipedia link : https://en.wikipedia.org/wiki/Beuren;

Details

Origin ID

D018980;

UMLS CUI

C0175702;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Williams Beuren syndrome [Disease (Nov.)]
- Williams Syndrome [NCIt concept]
- Williams syndrome [MedDRA Preferred Term]
- Williams syndrome [PASCAL descriptor]
- Williams syndrome [ORDO Disease]
- Williams syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren syndrome [DO Concept]
- Williams-Beuren syndrome [ICD-11 More detail]
- Williams-beuren syndrome [OMIM Phenotype]
- williams syndrome [SNOMED Notion]
DO Cross reference
- Williams-Beuren syndrome [DO Concept]
Indexing information
- BAZ1B protein, human [MeSH Supplementary Concept]
- BUD23 protein, human [MeSH Supplementary Concept]
- Baz1b protein, mouse [MeSH Supplementary Concept]
- Gtf2i protein, mouse [MeSH Supplementary Concept]
- NSUN5 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Malformation syndrome with short stature [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Rare cause of hypertension [ORDO Disease]
- Rare syndrome with cardiac malformations [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic epicanthus [ORDO Disease]
ORDO relation(s)
- Williams syndrome [ORDO Disease]
Record concept(s)
- williams syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Williams-Beuren region duplication syndrome [MeSH Supplementary Concept]
See also
- elastin [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Williams Beuren syndrome [Disease (Nov.)]
- Williams Syndrome [NCIt concept]
- Williams syndrome [ORDO Disease]
- Williams syndrome [MedDRA Preferred Term]
- Williams syndrome [PASCAL descriptor]
- Williams syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren syndrome [DO Concept]
- Williams-Beuren syndrome [ICD-11 More detail]
- Williams-beuren syndrome [OMIM Phenotype]
- williams syndrome [SNOMED Notion]

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