Beckwith-Wiedemann syndrome

Preferred Label : Beckwith-Wiedemann syndrome;

ICD-11 definition : Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.;

ICD-11 synonym : Exomphalos-macroglossia-gigantism syndrome;

Details

Origin ID

803086260;

UMLS CUI

C0004903;

Currated CISMeF NLP mapping
- Beckwith Wiedemann syndrome [Disease (Nov.)]
- Beckwith-Wiedemann Syndrome [NCIt concept]
- Beckwith-Wiedemann syndrome [DO Concept]
- Beckwith-Wiedemann syndrome [ORDO Disease]
- Beckwith-Wiedemann syndrome [PASCAL descriptor]
- Beckwith-Wiedemann syndrome [MeSH concept]
- Beckwith-Wiedemann syndrome [MedDRA Preferred Term]
- Beckwith-Wiedemann syndrome (disorder) [SNOMED CT concept]
- Beckwith-wiedemann syndrome [OMIM Phenotype]
- beckwith-wiedemann syndrome [SNOMED Notion]
- beckwith-wiedemann syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beckwith Wiedemann syndrome [Disease (Nov.)]
- Beckwith-Wiedemann Syndrome [NCIt concept]
- Beckwith-Wiedemann syndrome [DO Concept]
- Beckwith-Wiedemann syndrome [MedDRA Preferred Term]
- Beckwith-Wiedemann syndrome [MeSH concept]
- Beckwith-Wiedemann syndrome [ORDO Disease]
- Beckwith-Wiedemann syndrome [PASCAL descriptor]
- Beckwith-Wiedemann syndrome (disorder) [SNOMED CT concept]
- Beckwith-wiedemann syndrome [OMIM Phenotype]
- beckwith-wiedemann syndrome [MeSH Descriptor]
- beckwith-wiedemann syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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