Cortical dysplasia, complex, with other brain malformations 8

Preferred Label : Cortical dysplasia, complex, with other brain malformations 8;

Obsolete resource : true;

Moved to : 609528;

Symbol : CDCBM8;

CISMeF acronym : CDCBM8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polymicrogyria with optic nerve hypoplasia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tubulin, alpha-8 gene (TUBA8, 605472.0001);

Prefixed ID : 613180;

Détails

Origin ID

613180;

UMLS CUI

C2750798;

Currated CISMeF NLP mapping
- Polymicrogyria with optic nerve hypoplasia [ORDO Disease]
- Polymicrogyria with optic nerve hypoplasia (disorder) [SNOMED CT concept]
- polymicrogyria with optic nerve hypoplasia [MeSH concept]
- polymicrogyria with optic nerve hypoplasia [MeSH Supplementary Concept]
ORDO concept(s)
- Polymicrogyria with optic nerve hypoplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Polymicrogyria with optic nerve hypoplasia [ORDO Disease]
- Polymicrogyria with optic nerve hypoplasia (disorder) [SNOMED CT concept]
- polymicrogyria with optic nerve hypoplasia [MeSH Supplementary Concept]
- polymicrogyria with optic nerve hypoplasia [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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