Weaver syndrome

Preferred Label : Weaver syndrome;

ICD-11 definition : Weaver syndrome is an overgrowth syndrome characterized by accelerated osseous maturation associated with craniofacial (macrocephaly, broad forehead, hypertelorism, telecanthus, large and low-set ears, long and prominent philtrum and relative micrognathia), limb (prominent finger pads, thin and deeply-set nails, camptodactyly, wide distal long bones, foot deformities, and broad thumbs), neurological (psychomotor retardation) and other anomalies.;

Details

Origin ID

2042913723;

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 [NCIt concept]
- Weaver syndrome [DO Concept]
- Weaver syndrome [OMIM Phenotype]
- Weaver syndrome [MeSH concept]
- Weaver syndrome [ORDO Disease]
- 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]
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)]

Keyword's position in hierarchy(ies) :

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