1204415006: Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Cerebellar ataxia\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4955438013	SCAR3 - spinocerebellar ataxia autosomal recessive type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4955439017	Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4955440015	Autosomal recessive spinocerebellar ataxia type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4955441016	Autosomal recessive spinocerebellar ataxia, blindness, hearing loss syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4955442011	Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4955443018	A rare autosomal recessive syndromic cerebellar ataxia with the association of early-onset cerebellar ataxia, hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.	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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