branchial arch syndrome X-linked

Preferred Label : branchial arch syndrome X-linked;

MeSH note : Microcephaly, downslanting palpebral fissures, highly arched palate, protruding ears, hearing loss & webbed neck;

MeSH synonym : mandibulofacial dysostosis, toriello type; branchial arch syndrome, X-Linked;

Details

Origin ID

C537102;

UMLS CUI

C1844918;

Currated CISMeF NLP mapping
- Branchial arch syndrome, X-linked [OMIM Phenotype]
- X-linked mandibulofacial dysostosis [ORDO Disease]
- X-linked mandibulofacial dysostosis (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- High-arched palate [HPO term]
MeSH term(s) associated for indexing
- branchial region [MeSH Descriptor]
- ear [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- hearing loss [MeSH Descriptor]
- mandibulofacial dysostosis [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- neck [MeSH Descriptor]
Record concept(s)
- Branchial arch syndrome X-linked [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Branchial arch syndrome, X-linked [OMIM Phenotype]
- X-linked mandibulofacial dysostosis [ORDO Disease]
- X-linked mandibulofacial dysostosis (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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