Branchio-oculo-facial syndrome

Preferred Label : Branchio-oculo-facial syndrome;

ICD-11 definition : Branchio-oculo-facial syndrome (BOFS) is a genetic syndrome characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.;

CISMeF acronym : BOFS;

Details

Origin ID

1471530044;

UMLS CUI

C0376524;

Currated CISMeF NLP mapping
- Branchio-Oculo-Facial syndrome [MeSH concept]
- Branchio-oculo-facial syndrome [ORDO Disease]
- Branchiooculofacial syndrome [OMIM Phenotype]
- branchiooculofacial syndrome [DO Concept]
- branchiooculofacial syndrome [Disease (Nov.)]
See also inter- (CISMeF)
- Branchiooculofacial syndrome (disorder) [SNOMED CT concept]
- branchio-oto-renal syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Branchio-Oculo-Facial syndrome [MeSH concept]
- Branchio-oculo-facial syndrome [ORDO Disease]
- Branchiooculofacial syndrome [OMIM Phenotype]
- Branchiooculofacial syndrome (disorder) [SNOMED CT concept]
- branchiooculofacial syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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