Williams-Beuren region duplication syndrome

Preferred Label : Williams-Beuren region duplication syndrome;

MeSH synonym : wbs duplication syndrome; chromosome 7q11.23 duplication syndrome;

Details

Origin ID

C565723;

UMLS CUI

C1857844;

Currated CISMeF NLP mapping
- 7q11.23 duplication [ICD-11 More detail]
- 7q11.23 microduplication syndrome [ORDO Disease]
- 7q11.23 microduplication syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren Region Duplication Syndrome [NCIt concept]
- Williams-beuren region duplication syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- williams syndrome [MeSH Descriptor]
Record concept(s)
- Williams-Beuren region duplication syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 7q11.23 microduplication syndrome [ORDO Disease]
- Williams-Beuren Region Duplication Syndrome [NCIt concept]
- Williams-beuren region duplication syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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