724227000: ataxie spinocérébelleuse infantile (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\Infantile onset 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\Infantile onset 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\Infantile onset spinocerebellar ataxia (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \Cerebellar ataxia\ataxie spinocérébelleuse dominante\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Infantile onset 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\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile onset 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\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset 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\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\trouble métabolique\Mitochondrial cytopathy\Infantile onset spinocerebellar ataxia (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Infantile onset spinocerebellar ataxia (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3432877015	Infantile onset spinocerebellar ataxia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432878013	Infantile onset spinocerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432879017	Ohaha syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432880019	Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760411000241113	ataxie spinocérébelleuse infantile (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
876681000172115	ataxie spinocérébelleuse infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
930261000172118	syndrome Ohaha (ophtalmoplégie, hypotonie, ataxie, hypoacousie, athétose)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3432881015	A hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life threatening. Caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle. The c.1523A>G (p.Y508C) causative mutation has been postulated to be a founder mutation. The mutations lead to mtDNA depletion in the brain and the liver but not in the muscle. Inherited in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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