Congenital cerebellar hypoplasia

Congenital cerebellar hypoplasia (disorder)

active

Code	`16026008`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

Synonyms

Cerebellar hypoplasia
Congenital hypoplasia of cerebellum
Congenital small cerebellum
Hypoplasia of the cerebellum

Parents (2)

78693004Congenital hypoplasia of part of brain disorder
253171007Congenital malformation of cerebellum disorder

Children (24)

1237475006Cerebellar-facial-dental syndrome disorder
1177169004Congenital cerebellar ataxia due to RNU12 mutation disorder
715436007Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration disorder
1144389005Congenital hypoplasia of inferior vermis disorder
39574006Congenital hypoplasia of inner granular layer of cerebellum disorder
783176002Congenital muscular dystrophy with cerebellar involvement disorder
45163000Congenital pontocerebellar hypoplasia disorder
14447001Dandy-Walker syndrome disorder
254132000Endosteal hyperostoses with cerebellar hypoplasia disorder
253178001Granular cell hypoplasia disorder
782753000Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome disorder
771234002Isolated bilateral hemispheric cerebellar hypoplasia disorder
766709000Isolated cerebellar vermis hypoplasia disorder
766934006Isolated unilateral hemispheric cerebellar hypoplasia disorder
1229876001Lethal brain and heart developmental defects syndrome disorder
715817007Lissencephaly with cerebellar hypoplasia disorder
764732004Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome disorder
773497001Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome disorder
763821001Porencephaly, cerebellar hypoplasia, internal malformations syndrome disorder
1208727002Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome disorder
783703004White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome disorder
770604006X-linked cerebral, cerebellar, coloboma syndrome disorder
719136005X-linked intellectual disability with cerebellar hypoplasia syndrome disorder
1217228004X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome disorder