Choanal atresia - deafness - cardiac defects - dysmorphism

Preferred Label : Choanal atresia - deafness - cardiac defects - dysmorphism;

ICD-11 definition : Choanal atresia - deafness - cardiac defects - dysmorphism syndrome is characterised by bilateral choanal atresia associated with a characteristic facial appearance (prominent ears, hypertelorism with short palpebral fissures and abnormalities of the outer third of the lower eyelid).;

Details

Origin ID

1808187093;

UMLS CUI

C1837822;

Currated CISMeF NLP mapping
- Burn-McKeown syndrome [ORDO Disease]
- Burn-Mckeown syndrome [MeSH Supplementary Concept]
- Burn-Mckeown syndrome [MeSH concept]
- Burn-mckeown syndrome [OMIM Phenotype]
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Burn-McKeown syndrome [ORDO Disease]
- Burn-Mckeown syndrome [MeSH concept]
- Burn-Mckeown syndrome [MeSH Supplementary Concept]
- Burn-mckeown syndrome [OMIM Phenotype]
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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