Other specified congenital malformations of brain

Preferred Label : Other specified congenital malformations of brain;

Inclusion CIM-10 : Macrogyria; Arnold-Chiari syndrome, type IV;

Diag associé à un acte (%) : 88.9;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q048;

UMLS CUI

C0477972;

Automatic exact mappings (from CISMeF team)
- Macrogyria [HPO term]
- Macrogyria [MedDRA LLT]
- Macrogyria (disorder) [SNOMED CT concept]
- Pachygyria [MedDRA Preferred Term]
- lissencephaly [MeSH Descriptor]
DO Cross reference
- cortical dysplasia-focal epilepsy syndrome [DO Concept]
Orphanet concepts
- Bonnemann-Meinecke-Reich syndrome [ORDO Disease]
- CNTNAP2-related developmental and epileptic encephalopathy [ORDO Disease]
- Central bilateral macrogyria [ORDO Disease]
- Cerebral cortical dysplasia [ORDO Disease]
- Diencephalic-mesencephalic junction dysplasia [ORDO Disease]
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation [ORDO Disease]
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome [ORDO Disease]
- Isolated focal cortical dysplasia [ORDO Disease]
- Isolated focal cortical dysplasia type I [ORDO Disease]
- Isolated focal cortical dysplasia type II [ORDO Disease]
- Isolated focal cortical dysplasia type IIa [ORDO Disease]
- Isolated focal cortical dysplasia type IIb [ORDO Disease]
- Isolated focal cortical dysplasia type Ia [ORDO Disease]
- Isolated focal cortical dysplasia type Ib [ORDO Disease]
- Isolated focal cortical dysplasia type Ic [ORDO Disease]
- L1 syndrome [ORDO Disease]
- Lhermitte-Duclos disease [ORDO Disease]
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome [ORDO Disease]
- Midline cerebral malformation [ORDO Disease]
- NDE1-related microhydranencephaly [ORDO Disease]
- Nodular neuronal heterotopia [ORDO Disease]
- Non-syndromic cerebral malformation due to abnormal neuronal migration [ORDO Disease]
- Olivopontocerebellar atrophy-deafness syndrome [ORDO Disease]
- Periventricular nodular heterotopia [ORDO Disease]
- Pontine tegmental cap dysplasia [ORDO Disease]
- Sub-cortical nodular heterotopia [ORDO Disease]
- Subependymal nodular heterotopia [ORDO Disease]
- X-linked complicated corpus callosum dysgenesis [ORDO Disease]
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Other specified congenital anomalies of brain [ICD-9 code]

Keyword's position in hierarchy(ies) :

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