malformations of cortical development

Preferred Label : malformations of cortical development;

MeSH definition : Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.;

MeSH synonym : cortical development malformations; development malformation, cortical; cortical development malformation; malformations of cerebral cortex development;

CISMeF synonym : development malformations, cortical;

MeSH Hyperonym : Cortical Dysplasias; Dysplasia, Cortical; Cortical Dysplasia, Cerebral; Cerebral Cortical Dysplasia; Cerebral Cortical Dysplasias; Dysplasia, Cerebral Cortical;

MeSH hyponym : cortical dysplasia; Cortical Dysplasias; Dysplasia, Cortical; Dysplasias, Cortical; Cortical Dysplasia, Cerebral; Cerebral Cortical Dysplasias; Cortical Dysplasias, Cerebral; Dysplasia, Cerebral Cortical; Dysplasias, Cerebral Cortical; Cerebral Cortical Dysplasia; Cortical Dysplasia, Generalized; Dysplasia, Generalized Cortical; Generalized Cortical Dysplasias;

Details

Origin ID

D054220;

UMLS CUI

C1955869;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Cerebellar cortical dysplasia (disorder) [SNOMED CT concept]
- Cerebral cortical dysgenesis [MedDRA LLT]
- Cerebral cortical dysgenesis (disorder) [SNOMED CT concept]
- Congenital cerebral cysts [ICD-10 Sub-category (who)]
- Congenital porencephaly (disorder) [SNOMED CT concept]
- Cortical Dysplasia [NCIt concept]
- Cortical dysplasia [ICD-11 Sub-sub category]
- Cortical dysplasia [HPO term]
- Cortical dysplasia [MedDRA Preferred Term]
- Cortical dysplasia (disorder) [SNOMED CT concept]
- Dysplasia of cerebral cortex (disorder) [Inactive SNOMED CT concept]
- Focal cortical dysplasia [MedDRA LLT]
- Focal cortical dysplasia [ICD-11 More detail]
- Focal cortical dysplasia, type II [OMIM Phenotype]
- Hemimegalencephaly [HPO term]
- Hemimegalencephaly [ORDO Disease]
- Hemimegalencephaly (disorder) [SNOMED CT concept]
- Isolated focal cortical dysplasia [ORDO Disease]
- Megalencephaly [PASCAL descriptor]
- Megalencephaly [ICD-10 Sub-category (who)]
- Megalencephaly [HPO term]
- Megalencephaly [ORDO Disease]
- Megalencephaly [HRDO Sign]
- Megalencephaly, autosomal dominant [OMIM Phenotype]
- Microgyria (disorder) [SNOMED CT concept]
- Polymicrogyria [MedDRA Preferred Term]
- Polymicrogyria [PASCAL descriptor]
- Polymicrogyria [HPO term]
- Polymicrogyria [ORDO Disease]
- Schizencephaly [HPO term]
- Schizencephaly [ORDO Disease]
- Schizencephaly [HRDO Sign]
- Schizencephaly [MedDRA Preferred Term]
- Schizencephaly [OMIM Phenotype]
- Schizencephaly (disorder) [SNOMED CT concept]
- cerebral cortical dysgenesis [SNOMED Notion]
- macroencephaly [SNOMED Notion]
- polymicrogyria [Radlex concept]
Currated CISMeF NLP mapping
- Malformations of Cortical Development [NCIt concept]
HPO term
- Cortical dysplasia [HPO term]
Manual BTNT mappings - CISMeF
- Bilateral frontal polymicrogyria [ORDO Disease]
- Bilateral frontoparietal polymicrogyria [ORDO Disease]
- Bilateral generalized polymicrogyria [ORDO Disease]
- Bilateral parasagittal parieto-occipital polymicrogyria [ORDO Disease]
- Bilateral perisylvian polymicrogyria [ORDO Disease]
- Unilateral hemispheric polymicrogyria [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Cerebral malformation with epilepsy [ORDO Disease]
- Malformation of the cerebellar vermis [ORDO Disease]
- Non-syndromic central nervous system malformation [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
Mapping VCM hiérarchique
- deformity [VCM modifier]
Record concept(s)
- Generalized Cortical Dysplasia [MeSH concept]
- cortical dysplasia [MeSH concept]
- malformations of cortical development [MeSH concept]
Related MeSH Supplementary Concept(s)
- Cortical Dysplasia-Focal Epilepsy Syndrome [MeSH Supplementary Concept]
- Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome [MeSH Supplementary Concept]
- cortical dysplasia of taylor without balloon cells [MeSH Supplementary Concept]
- curatolo cilio pessagno syndrome [MeSH Supplementary Concept]
- familial schizencephaly [MeSH Supplementary Concept]
- focal cortical dysplasia of taylor [MeSH Supplementary Concept]
- growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [MeSH Supplementary Concept]
- muller barth menger syndrome [MeSH Supplementary Concept]
- non-lissencephalic cortical dysplasia [MeSH Supplementary Concept]
- perisylvian syndrome [MeSH Supplementary Concept]
- polymicrogyria with optic nerve hypoplasia [MeSH Supplementary Concept]
- polymicrogyria, asymmetric [MeSH Supplementary Concept]
- polymicrogyria, bilateral frontoparietal [MeSH Supplementary Concept]
- polymicrogyria, bilateral occipital [MeSH Supplementary Concept]
- sebaceous nevus syndrome and hemimegalencephaly [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- cerebral cortex [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Malformations of Cortical Development [NCIt concept]

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