Focal Cortical Dysplasia Type 2

Preferred Label : Focal Cortical Dysplasia Type 2;

NCIt synonyms : Focal Cortical Dysplasia Type II; FCDII; FCD2;

NCIt definition : Focal cortical dysplasia characterized by disrupted cortical lamination and specific cytological abnormalities. It includes type IIa with dysmorphic neurons and type IIb with dysmorphic neurons and balloon cells.;

Details

Origin ID

C201593;

UMLS CUI

C1846385;

Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Focal cortical dysplasia of Taylor [MeSH concept]
- Focal cortical dysplasia type II [HPO term]
- Focal cortical dysplasia type II (disorder) [SNOMED CT concept]
- Focal cortical dysplasia, type II [OMIM Phenotype]
- Isolated focal cortical dysplasia type II [ORDO Disease]
- focal cortical dysplasia of taylor [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
related_to_genetic_biomarker
- MTOR Gene [NCIt concept]
- TSC1 Gene [NCIt concept]
- TSC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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