230227009: Early onset cerebellar ataxia (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia

\Finding related to coordination / incoordination (finding)\Ataxia\Cerebellar ataxia\Early onset cerebellar ataxia

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345033012 Early onset cerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618008010 Early onset cerebellar ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1773431000005114 tidligt debuterende cerebellar ataksi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Early onset cerebellar ataxia	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Early onset cerebellar ataxia	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Early onset cerebellar ataxia	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Early onset cerebellar ataxia	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Early onset cerebellar ataxia	Finding site	Cerebellar structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Early onset cerebellar ataxia with myoclonus	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Early onset cerebellar ataxia with retained tendon reflexes	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Early onset cerebellar ataxia with hypogonadism	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Early onset cerebellar ataxia with retinitis pigmentosa and optic atrophy	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Early onset cerebellar ataxia with essential tremor	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Marinesco-Sjögren syndrome (disorder)	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
A rare genetic central nervous system malformation syndrome with characteristics of early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. There is evidence the disease is caused by homozygous mutation in the SNX14 gene on chromosome 6q14.	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
A rare mitochondrial DNA maintenance syndrome with characteristics of early-onset cerebellar ataxia and a variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some

This concept is not in any reference sets