weaver syndrome

Preferred Label : weaver syndrome;

MeSH note : Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly;

MeSH synonym : weaver smith syndrome; Weaver-Smith syndrome;

Details

Origin ID

C536687;

UMLS CUI

C0265210;

Automatic exact mappings (from CISMeF team)
- Weaver syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
- Weaver Smith syndrome [Disease (Nov.)]
- Weaver Syndrome [NCIt concept]
- Weaver syndrome [ICD-11 More detail]
- Weaver syndrome [DO Concept]
- Weaver syndrome [OMIM Phenotype]
- Weaver syndrome [ORDO Disease]
- Weaver syndrome (disorder) [SNOMED CT concept]
- weaver syndrome [SNOMED Notion]
Has phenotype(s) (HPO)
- Broad phalanges of the thumb [HPO term]
- Flared irregular metaphyses [HPO term]
- Flattened nasal bridge [HPO term]
- Prominent chin with central dimple [HPO term]
- Speech delay [HPO term]
- Thin hair [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- congenital hypothyroidism [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
ORDO relation(s)
- Weaver syndrome [ORDO Disease]
Record concept(s)
- Weaver syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
- Weaver Smith syndrome [Disease (Nov.)]
- Weaver Syndrome [NCIt concept]
- Weaver syndrome [ORDO Disease]
- Weaver syndrome [OMIM Phenotype]
- Weaver syndrome [ICD-11 More detail]
- Weaver syndrome [MedDRA Preferred Term]
- Weaver syndrome (disorder) [SNOMED CT concept]
- weaver syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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