Weaver Syndrome

Preferred Label : Weaver Syndrome;

NCIt synonyms : WVS;

NCIt related terms : Weaver-Smith Syndrome;

NCIt definition : A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability.;

Alternative definition : NICHD: An overgrowth syndrome caused by a heterozygous mutation(s) in the EZH2 gene, encoding histone-lysine N-methyltransferase EZH2. This condition is characterized by rapid prenatal and early childhood growth, advanced bone maturation and carpal bone development, craniofacial and skeletal abnormalities, and developmental delay. The distinctive physical and craniofacial characteristics may include macrocephaly, flattened occiput, long philtrum, strabismus, hypertelorism, epicanthal folds, and camptodactyly.;

Details

Origin ID

C125599;

UMLS CUI

C0265210;

Automatic exact mappings (from CISMeF team)
- Weaver syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Weaver Smith syndrome [Disease (Nov.)]
- Weaver syndrome [OMIM Phenotype]
- Weaver syndrome [ORDO Disease]
- Weaver syndrome [DO Concept]
- Weaver syndrome [MeSH concept]
- Weaver syndrome [ICD-11 More detail]
- Weaver syndrome (disorder) [SNOMED CT concept]
- weaver syndrome [MeSH Supplementary Concept]
- weaver syndrome [SNOMED Notion]
See also inter- (CISMeF)
- Weaver-like syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Weaver Smith syndrome [Disease (Nov.)]
- Weaver syndrome [ORDO Disease]
- Weaver syndrome [OMIM Phenotype]
- Weaver syndrome [MeSH concept]
- Weaver syndrome [ICD-11 More detail]
- Weaver syndrome [MedDRA Preferred Term]
- Weaver syndrome (disorder) [SNOMED CT concept]
- weaver syndrome [SNOMED Notion]
- weaver syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- EZH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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