253171007: Dysgenesis of the cerebellum (disorder)

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

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

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

\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
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum
\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
\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
\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
\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
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum
\Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum
\Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum
\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
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysgenesis of the cerebellum	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum	Is a	Disorder of brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum	Finding site	Cerebellar structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the cerebellum	Is a	Cerebellar disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysgenesis of the cerebellum	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysgenesis of the cerebellum	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the cerebellum	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum	Is a	Lesion of brain (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum	Is a	Congenital anomaly of brain	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the cerebellum	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the cerebellum	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the cerebellum	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the cerebellum	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the cerebellum	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysgenesis of the cerebellum	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysgenesis of the cerebellum	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysgenesis of the cerebellum	Is a	Congenital anomaly of nervous system of head/neck	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the cerebellum	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the cerebellum	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Agenesis of cerebellum (disorder)	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of the vermis	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Gillespie syndrome	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Absence of the vermis	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Granular cell hypoplasia	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar cortical dysplasia	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Dentate dysplasia	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cerebellar hypoplasia	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of cerebellum	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of cerebellum NOS	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar hemangioblastomatosis	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of cerebellum	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cerebellar cortical atrophy (disorder)	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Chiari malformation type III	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Chiari malformation type III	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar hemangioblastomatosis	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomalies of cerebellum	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Chudley McCullough syndrome (disorder)	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Chiari malformation	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Tubulinopathy-associated dysgyria (disorder)	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)
Aprosencephaly cerebellar dysgenesis	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
377063012	Dysgenesis of the cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
643898012	Dysgenesis of the cerebellum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
377063012	Dysgenesis of the cerebellum	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
377063012	Dysgenesis of the cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
643898012	Dysgenesis of the cerebellum (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
643898012	Dysgenesis of the cerebellum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
196841000077119	dysgénésie du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
196841000077119	dysgénésie du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module