230227009: vroeg optredende cerebellaire ataxie (aandoening)

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

87541000146113 vroeg optredende cerebellaire ataxie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

957841000146114 vroeg optredende cerebellaire ataxie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Early onset cerebellar ataxia	Associated morphology	degeneratie (afwijkende morfologie)	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
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder)	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Spectrin-associated autosomal recessive cerebellar ataxia	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some
Recessive mitochondrial ataxia syndrome (disorder)	Is a	True	Early onset cerebellar ataxia	Inferred relationship	Some

This concept is not in any reference sets