785301002: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)

• 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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Cerebellar ataxia\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3766838017	Autosomal recessive spinocerebellar ataxia type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766839013	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766840010	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766841014	SCAR7 - autosomal recessive spinocerebellar ataxia type 7	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3766842019	A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15.	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)

Description inactivation indicator reference set

GB English

US English

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