719252002: ataxie spinocérébelleuse type 27 (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar ataxia type 27 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315689017	Spinocerebellar ataxia type 27 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315690014	Spinocerebellar ataxia type 27	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
753841000241110	ataxie spinocérébelleuse type 27 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
892441000172116	ataxie spinocérébelleuse type 27	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
918101000172119	SCA27 - spinocerebellar ataxia type 27	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3315691013	Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

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US English

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