16026008: Congenital cerebellar hypoplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia

\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1221252015 Hypoplasia of the cerebellum en Synonym Active Case insensitive SNOMED CT core
27131016 Congenital cerebellar hypoplasia en Synonym Active Case insensitive SNOMED CT core
27132011 Cerebellar hypoplasia en Synonym Active Case insensitive SNOMED CT core
27133018 Congenital hypoplasia of cerebellum en Synonym Active Case insensitive SNOMED CT core
27134012 Congenital small cerebellum en Synonym Active Case insensitive SNOMED CT core
742969019 Congenital cerebellar hypoplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cerebellar hypoplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	Is a	Congenital hypoplasia of part of brain	true	Inferred relationship	Some
Congenital cerebellar hypoplasia	Is a	Dysgenesis of the cerebellum	true	Inferred relationship	Some
Congenital cerebellar hypoplasia	Associated morphology	Congenital developmental anomaly	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	Associated morphology	Hypoplasia	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	Finding site	Structure of central nervous system	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Dandy-Walker syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital muscular dystrophy with cerebellar involvement	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital cerebellar ataxia due to RNU12 mutation	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Lethal brain and heart developmental defects syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Cerebellar-facial-dental syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital hypoplasia of inner granular layer of cerebellum	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Granular cell hypoplasia	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Lissencephaly with cerebellar hypoplasia	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
X-linked intellectual disability with cerebellar hypoplasia syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Isolated cerebellar vermis hypoplasia	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
X-linked cerebral, cerebellar, coloboma syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1221252015	Hypoplasia of the cerebellum	en	Synonym	Active	Case insensitive	SNOMED CT core
27131016	Congenital cerebellar hypoplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
27132011	Cerebellar hypoplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
27133018	Congenital hypoplasia of cerebellum	en	Synonym	Active	Case insensitive	SNOMED CT core
27134012	Congenital small cerebellum	en	Synonym	Active	Case insensitive	SNOMED CT core
742969019	Congenital cerebellar hypoplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core