williams syndrome - CISMeF

CISMeF

chu

Williams syndromeSNOMED Notion

Preferred Label : williams syndrome;

Details

Origin ID

D4-00301;

UMLS CUI

C0175702;

Currated CISMeF NLP mapping
- Williams Beuren syndrome [Disease (Nov.)]
- Williams Syndrome [NCIt concept]
- Williams syndrome [MedDRA Preferred Term]
- Williams syndrome [PASCAL descriptor]
- Williams syndrome [ORDO Disease]
- Williams syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren syndrome [DO Concept]
- Williams-Beuren syndrome [ICD-11 More detail]
- Williams-beuren syndrome [OMIM Phenotype]
- williams syndrome [MeSH Descriptor]
- williams syndrome [MeSH concept]
ICD-10 exact mapping(s)
- Other specified congenital malformations of skull and face bones [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Malformation syndrome with short stature [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Rare cause of hypertension [ORDO Disease]
- Rare syndrome with cardiac malformations [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic epicanthus [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Williams syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Williams Beuren syndrome [Disease (Nov.)]
- Williams Syndrome [NCIt concept]
- Williams syndrome [ORDO Disease]
- Williams syndrome [PASCAL descriptor]
- Williams syndrome [MedDRA Preferred Term]
- Williams syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren syndrome [DO Concept]
- Williams-Beuren syndrome [ICD-11 More detail]
- Williams-beuren syndrome [OMIM Phenotype]
- williams syndrome [MeSH Descriptor]
- williams syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
31/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.