polymicrogyria with optic nerve hypoplasia

Preferred Label : polymicrogyria with optic nerve hypoplasia;

MeSH note : TUBA8 mutations;

Origin ID

C567715;

UMLS CUI

C2750798;

Currated CISMeF NLP mapping
- Cortical dysplasia, complex, with other brain malformations 8 [OMIM Phenotype]
- Polymicrogyria with optic nerve hypoplasia [ORDO Disease]
- Polymicrogyria with optic nerve hypoplasia (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- malformations of cortical development [MeSH Descriptor]
- optic nerve [MeSH Descriptor]
Record concept(s)
- polymicrogyria with optic nerve hypoplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cortical dysplasia, complex, with other brain malformations 8 [OMIM Phenotype]
- Polymicrogyria with optic nerve hypoplasia [ORDO Disease]
- Polymicrogyria with optic nerve hypoplasia (disorder) [SNOMED CT concept]