Schilbach-Rott syndrome ocular hypotelorism, submucosal cleft palate, and hypospadias

Preferred Label : Schilbach-Rott syndrome ocular hypotelorism, submucosal cleft palate, and hypospadias;

MeSH synonym : ocular hypotelorism, submucosal cleft palate, and hypospadias; cleft palate, hypotelorism, and hypospadias; blepharofacioskeletal syndrome;

Details

Origin ID

C563509;

UMLS CUI

C1834038;

Automatic exact mappings (from CISMeF team)
- Blepharofacioskeletal syndrome [ORDO Disease]
- Hypotelorism - cleft palate - hypospadias [ICD-11 More detail]
Currated CISMeF NLP mapping
- Schilbach-Rott syndrome [ORDO Disease]
- Schilbach-rott syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- cleft palate [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- hypospadias [MeSH Descriptor]
Record concept(s)
- Schilbach-Rott syndrome ocular hypotelorism, submucosal cleft palate, and hypospadias [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schilbach Rott syndrome (disorder) [SNOMED CT concept]
- Schilbach-Rott syndrome [ORDO Disease]
- Schilbach-rott syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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