16026008: Congenital cerebellar hypoplasia (disorder)

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

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\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\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Disorder of head (disorder)\Disorder of brain\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\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia
\Disease\Developmental disorder (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 (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	Existential restriction modifier (core metadata concept)
Congenital cerebellar hypoplasia	Is a	Dysgenesis of the cerebellum	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cerebellar hypoplasia	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cerebellar hypoplasia	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cerebellar hypoplasia	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cerebellar hypoplasia	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cerebellar hypoplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cerebellar hypoplasia	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cerebellar hypoplasia	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cerebellar hypoplasia	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cerebellar hypoplasia	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cerebellar hypoplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cerebellar hypoplasia	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cerebellar hypoplasia	Associated morphology	Hypoplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cerebellar hypoplasia	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cerebellar hypoplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cerebellar hypoplasia	Finding site	Cerebellar structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cerebellar hypoplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Granular cell hypoplasia	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cerebellar hypoplasia syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated hypoplasia of cerebellar vermis (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Dandy-Walker syndrome (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy with cerebellar involvement	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait.	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal brain and heart developmental defects syndrome (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar-facial-dental syndrome (disorder)	Is a	True	Congenital cerebellar hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

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
27131016	Congenital cerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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
4442251000241115	hypoplasie cérébelleuse congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4442251000241115	hypoplasie cérébelleuse congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module