Williams-Beuren syndrome

Preferred Label : Williams-Beuren syndrome;

ICD-11 definition : Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile.;

ICD-11 synonym : 7q11.23 deletion; Monosomy 7q11.23; Williams syndrome;

Details

Origin ID

1644383468;

UMLS CUI

C0175702;

Automatic exact mappings (from CISMeF team)
- elastin [HGNC gene]
Currated CISMeF NLP mapping
- 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 [OMIM Phenotype]
- williams syndrome [MeSH Descriptor]
- williams syndrome [MeSH concept]
- williams syndrome [SNOMED Notion]
See also inter- (CISMeF)
- elastin [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Williams Beuren syndrome [Disease (Nov.)]
- Williams Syndrome [NCIt concept]
- Williams syndrome [MedDRA Preferred Term]
- Williams syndrome [ORDO Disease]
- Williams syndrome [PASCAL descriptor]
- Williams syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren syndrome [DO Concept]
- Williams-beuren syndrome [OMIM Phenotype]
- williams syndrome [MeSH Descriptor]
- williams syndrome [MeSH concept]
- williams syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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