Williams-Beuren Region Duplication Syndrome

Preferred Label : Williams-Beuren Region Duplication Syndrome;

NCIt synonyms : Somerville-Van Der AA Syndrome; Chromosome 7q11.23 Duplication Syndrome; WBS Duplication Syndrome;

NCIt definition : A rare chromosomal anomaly cause by partial duplication of small segment of chromosome 7 (7q11.23). It is characterized by a highly variable phenotype, typically including mild-moderate intellectual developmental delay, and delayed development of speech and motor skills.;

Details

Origin ID

C165597;

UMLS CUI

C1857844;

Currated CISMeF NLP mapping
- 7q11.23 duplication [ICD-11 More detail]
- 7q11.23 duplication syndrome [DO Concept]
- 7q11.23 microduplication syndrome [ORDO Disease]
- 7q11.23 microduplication syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren region duplication syndrome [MeSH Supplementary Concept]
- Williams-Beuren region duplication syndrome [MeSH concept]
- Williams-beuren region duplication syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 7q11.23 microduplication syndrome [ORDO Disease]
- Williams-Beuren region duplication syndrome [MeSH Supplementary Concept]
- Williams-Beuren region duplication syndrome [MeSH concept]
- Williams-beuren region duplication syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 7 [NCIt concept]

Keyword's position in hierarchy(ies) :

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