goldblatt viljoen syndrome

Preferred Label : goldblatt viljoen syndrome;

MeSH synonym : autosomal dominant radial ray hypoplasia syndrome; goldblatt viljoen radial ray hypoplasia; radial ray hypoplasia with choanal hypoplasia; Radial Ray Hypoplasia with Choanal Atresia; Radial ray hypoplasia choanal atresia;

Details

Origin ID

C537280;

UMLS CUI

C2931464;

Currated CISMeF NLP mapping
- Choanal atresia with radial ray hypoplasia (disorder) [SNOMED CT concept]
- Radial ray hypoplasia with choanal atresia [OMIM Phenotype]
- Radial ray hypoplasia-choanal atresia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- choanal atresia [MeSH Descriptor]
- esotropia [MeSH Descriptor]
- radius [MeSH Descriptor]
ORDO relation(s)
- Radial ray hypoplasia-choanal atresia syndrome [ORDO Disease]
Record concept(s)
- Goldblatt Viljoen syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Choanal atresia with radial ray hypoplasia (disorder) [SNOMED CT concept]
- Radial ray hypoplasia with choanal atresia [OMIM Phenotype]

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