253171007: Dysgenesis of the cerebellum (disorder)

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

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

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

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum
\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
\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
\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
\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
\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 (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum
\Disease\Developmental 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:

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

196841000077119 dysgénésie du cervelet fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	Some
Dysgenesis of the cerebellum	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Dysgenesis of the cerebellum	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Dysgenesis of the cerebellum	Occurrence	Congenital	false	Inferred relationship	Some
Dysgenesis of the cerebellum	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Is a	Cerebellar disorder	true	Inferred relationship	Some
Dysgenesis of the cerebellum	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Dysgenesis of the cerebellum	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Dysgenesis of the cerebellum	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Dysgenesis of the cerebellum	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Dysgenesis of the cerebellum	Is a	Lesion of brain	false	Inferred relationship	Some
Dysgenesis of the cerebellum	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Dysgenesis of the cerebellum	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Occurrence	Congenital	false	Inferred relationship	Some	2
Dysgenesis of the cerebellum	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Dysgenesis of the cerebellum	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Dysgenesis of the cerebellum	Is a	Congenital anomaly of nervous system of head/neck	false	Inferred relationship	Some
Dysgenesis of the cerebellum	Occurrence	Congenital	true	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Agenesis of cerebellum	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Aplasia of the vermis	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
A rare genetic developmental and neurological disorder characterised by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia.	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Absence of the vermis	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Granular cell hypoplasia	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Cerebellar cortical dysplasia	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
Dentate dysplasia	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
Congenital cerebellar hypoplasia	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Congenital abnormal shape of cerebellum	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
Anomaly of cerebellum NOS	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Cerebellar hemangioblastomatosis	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Aplasia of cerebellum	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
Congenital cerebellar cortical atrophy (disorder)	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Chiari malformation type III	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Chiari malformation type III	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Cerebellar hemangioblastomatosis	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Anomalies of cerebellum	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
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	Some
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	Is a	False	Dysgenesis of the cerebellum	Inferred relationship	Some
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
Chiari malformation (disorder)	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some
A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.	Is a	True	Dysgenesis of the cerebellum	Inferred relationship	Some

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
196841000077119	dysgénésie du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module