coloboma of alar-nasal cartilages with telecanthus

Preferred Label : coloboma of alar-nasal cartilages with telecanthus;

MeSH synonym : frontonasal dysplasia with alar clefts; Alar-Nasal cartilages, coloboma of, with telecanthus;

Détails

Origin ID

C535967;

UMLS CUI

C1859964;

Currated CISMeF NLP mapping
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome [ORDO Disease]
- Frontonasal dysplasia with alar clefts [OMIM Phenotype]
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- blepharophimosis [MeSH Descriptor]
- coloboma [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- coloboma of alar-nasal cartilages with telecanthus [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome [ORDO Disease]
- Frontonasal dysplasia with alar clefts [OMIM Phenotype]

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