16026008: Congenital cerebellar hypoplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

\Finding of brain\Disorder of brain (disorder)\...

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	kongenital hypoplasi	false	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	Associated morphology	utvecklingsabnormitet	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 (body structure)	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	Occurrence	Congenital	false	Inferred relationship	Some
Congenital cerebellar hypoplasia	Associated morphology	kongenital utvecklingsanomali	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	kongenital hypoplasi	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	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital hypoplasia of inner granular layer of cerebellum	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Granular cell hypoplasia (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	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 (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
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 RNA, U12 small nuclear mutation (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	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 (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Cerebellar-facial-dental syndrome (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
27131016	Congenital cerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
27132011	Cerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
27133018	Congenital hypoplasia of cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
27134012	Congenital small cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
742969019	Congenital cerebellar hypoplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1221252015	Hypoplasia of the cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2759721000052111	medfödd lillhjärnshypoplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)