beckwith-wiedemann syndrome

Preferred Label : beckwith-wiedemann syndrome;

MeSH definition : A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.;

MeSH synonym : syndrome, wiedemann-beckwith; wiedemann beckwith syndrome; wiedemann-beckwith syndrome; Syndrome, Wiedemann-Beckwith (WBS); Wiedemann Beckwith Syndrome (WBS); Wiedemann-Beckwith Syndromes (WBS); Wiedemann-Beckwith Syndrome (WBS); syndrome, beckwith-wiedemann; beckwith wiedemann syndrome; EMG syndrome; EMG syndromes; syndrome, EMG; Exomphalos-Macroglossia-Gigantism syndrome; Wiedemann Syndrome; Syndrome, Wiedemann; Wiedemann Syndromes; Exomphalos Macroglossia Gigantism Syndrome; Exomphalos-Macroglossia-Gigantism Syndromes; Syndrome, Exomphalos-Macroglossia-Gigantism;

CISMeF synonym : beckwith-wiedemann's syndrome; exomphalos macroglossia gigantism syndrome; syndrome, exomphalos-macroglossia-gigantism; Syndromes, Exomphalos-Macroglossia-Gigantism; Syndromes, Wiedemann-Beckwith (WBS); syndromes, EMG;

CISMeF acronym : WBS;

Wikipedia link : https://en.wikipedia.org/wiki/Beckwith wiedemann syndrome;

Details

Origin ID

D001506;

UMLS CUI

C0004903;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Beckwith Wiedemann syndrome [Disease (Nov.)]
- Beckwith-Wiedemann Syndrome [NCIt concept]
- Beckwith-Wiedemann syndrome [PASCAL descriptor]
- Beckwith-Wiedemann syndrome [DO Concept]
- Beckwith-Wiedemann syndrome [MedDRA Preferred Term]
- Beckwith-Wiedemann syndrome [ICD-11 More detail]
- Beckwith-Wiedemann syndrome [ORDO Disease]
- Beckwith-Wiedemann syndrome (disorder) [SNOMED CT concept]
- Beckwith-wiedemann syndrome [OMIM Phenotype]
- beckwith-wiedemann syndrome [SNOMED Notion]
DO Cross reference
- Beckwith-Wiedemann syndrome [DO Concept]
Indexing information
- KCNQ1OT1 RNA [MeSH Supplementary Concept]
- SLC22A18AS protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Genetic renal tumor [ORDO Disease]
- Overgrowth syndrome [ORDO Disease]
- Paternal uniparental disomy [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare renal tumor [ORDO Disease]
- Syndrome associated with hypertrophic cardiomyopathy [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
ORDO relation(s)
- Beckwith-Wiedemann syndrome [ORDO Disease]
Record concept(s)
- Beckwith-Wiedemann syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- franceschini vardeu guala syndrome [MeSH Supplementary Concept]
See also
- Silver-Russell syndrome [MeSH Descriptor]
- genes, wilms tumor [MeSH Descriptor]
- gigantism [MeSH Descriptor]
- hernia, umbilical [MeSH Descriptor]
- macroglossia [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 [ORDO Disease]
- Beckwith-Wiedemann syndrome [MedDRA Preferred Term]
- Beckwith-Wiedemann syndrome [DO Concept]
- Beckwith-Wiedemann syndrome [PASCAL descriptor]
- Beckwith-Wiedemann syndrome [ICD-11 More detail]
- Beckwith-Wiedemann syndrome (disorder) [SNOMED CT concept]
- Beckwith-wiedemann syndrome [OMIM Phenotype]
- beckwith-wiedemann syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]
Validated automatic mappings to NTBT
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]

Keyword's position in hierarchy(ies) :

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