Congenital cerebellar hypoplasia 16026008 SNOMED CT code SNOMED code 16026008 name Congenital cerebellar hypoplasia status active date introduced 2002-01-31 fully specified name(s) Congenital cerebellar hypoplasia (disorder) synonyms Hypoplasia of the cerebellum Congenital cerebellar hypoplasia Cerebellar hypoplasia Congenital hypoplasia of cerebellum Congenital small cerebellum attributes - group1 Pathological process Pathological developmental process 308490002 Associated morphology Hypoplasia 55199003 Occurrence Congenital 255399007 Finding site Cerebellar structure 113305005 parents Dysgenesis of the cerebellum 253171007 Congenital hypoplasia of part of brain 78693004 children Cerebellar-facial-dental syndrome 1237475006 Congenital cerebellar ataxia due to RNU12 mutation 1177169004 Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration 715436007 Congenital hypoplasia of inner granular layer of cerebellum 39574006 Congenital muscular dystrophy with cerebellar involvement 783176002 Congenital pontocerebellar hypoplasia 45163000 Dandy-Walker syndrome 14447001 Endosteal hyperostoses with cerebellar hypoplasia 254132000 Granular cell hypoplasia 253178001 Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000 Isolated cerebellar vermis hypoplasia 766709000 Lethal brain and heart developmental defects syndrome 1229876001 Lissencephaly with cerebellar hypoplasia 715817007 Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004 Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome 773497001 Porencephaly, cerebellar hypoplasia, internal malformations syndrome 763821001 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002 White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome 783703004 X-linked cerebral, cerebellar, coloboma syndrome 770604006 X-linked intellectual disability with cerebellar hypoplasia syndrome 719136005 X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome 1217228004 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 246556002 299718000 81308009 223176004 253171007 16026008 138875005 404684003 246556002 23853001 128124001 57148006 127551000119100 78693004 16026008 ancestors sorted most to least specific
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