230227009: Early onset cerebellar ataxia (disorder)

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

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

\Finding of coordination\Ataxia\Cerebellar ataxia\Early onset cerebellar ataxia (disorder)

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

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

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

345033012 Early onset cerebellar ataxia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

4957341000241111 ataxie cérébelleuse d'apparition précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4957341000241111 ataxie cérébelleuse d'apparition précoce 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
Early onset cerebellar ataxia (disorder)	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Early onset cerebellar ataxia (disorder)	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Early onset cerebellar ataxia (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Early onset cerebellar ataxia (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Early onset cerebellar ataxia (disorder)	Finding site	Cerebellar structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Early onset cerebellar ataxia with myoclonus	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Early onset cerebellar ataxia with retained tendon reflexes	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Early onset cerebellar ataxia with hypogonadism	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Early onset cerebellar ataxia with retinitis pigmentosa and optic atrophy	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Early onset cerebellar ataxia with essential tremor	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Marinesco-Sjögren syndrome (disorder)	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder)	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spectrin-associated autosomal recessive cerebellar ataxia	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive mitochondrial ataxia syndrome (disorder)	Is a	True	Early onset cerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets