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766818009: X-linked non progressive cerebellar ataxia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3662725016 X-linked non progressive cerebellar ataxia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662726015 X-linked non progressive cerebellar ataxia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662727012 X-linked spinocerebellar ataxia type 5 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404671017 X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404672012 X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterised by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662725016 X-linked non progressive cerebellar ataxia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662726015 X-linked non progressive cerebellar ataxia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662727012 X-linked spinocerebellar ataxia type 5 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662728019 A rare hereditary ataxia with characteristics of delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404671017 X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404672012 X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterised by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3438421001000117 Ataxie, zerebelläre, nicht-progressive, X-chromosomale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873701000172111 ataxie spinocérébelleuse liée à l'X type 5 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
890211000172115 ataxie cérébelleuse liée à l'X non progressive fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873701000172111 ataxie spinocérébelleuse liée à l'X type 5 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
890211000172115 ataxie cérébelleuse liée à l'X non progressive fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438421001000117 Ataxie, zerebelläre, nicht-progressive, X-chromosomale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked non progressive cerebellar ataxia (disorder) Is a Hereditary ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked non progressive cerebellar ataxia (disorder) Is a Cerebellar ataxia true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked non progressive cerebellar ataxia (disorder) Clinical course Non-progressive (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked non progressive cerebellar ataxia (disorder) Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked non progressive cerebellar ataxia (disorder) Is a Congenital non-progressive ataxia true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked non progressive cerebellar ataxia (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a Non-progressive cerebellar ataxia true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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