Branchio-skeleto-genital syndrome

Preferred Label : Branchio-skeleto-genital syndrome;

ICD-11 definition : Brachio-skeleto-genital syndrome is a multiple congenital anomalies syndrome characterised by intellectual deficit, maxillary hypoplasia, mandibular prognathism, dental cysts, a broad nasal bridge, hypertelorism, bifid uvula or partial cleft plate, pectus excavatum, fused cervical spinous processes, penoscrotal hypospadias, and Schmorl nodes (vertical disc herniations through the cartilaginous vertebral body endplates).;

Details

Origin ID

1707825158;

UMLS CUI

C0809936;

Automatic exact mappings (from CISMeF team)
- Elsahy-Waters syndrome [DO Concept]
Currated CISMeF NLP mapping
- Brachioskeletogenital syndrome [MeSH concept]
- Branchioskeletogenital syndrome [ORDO Disease]
- Branchioskeletogenital syndrome (disorder) [SNOMED CT concept]
- Elsahy-waters syndrome [OMIM Phenotype]
- brachioskeletogenital syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Branchioskeletogenital syndrome (disorder) [SNOMED CT concept]
- Elsahy-waters syndrome [OMIM Phenotype]
- brachioskeletogenital syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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