1204415006: Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Ear and auditory finding\Hearing finding\Decreased hearing\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Functional finding\Decline in functional status (finding)\Decreased hearing\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Functional finding\Hearing finding\Decreased hearing\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

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
5399798012	A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with 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
5399799016	A rare autosomal recessive syndromic cerebellar ataxia characterised by the association of early-onset cerebellar ataxia with 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
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
5399798012	A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with 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
5399799016	A rare autosomal recessive syndromic cerebellar ataxia characterised by the association of early-onset cerebellar ataxia with 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
592541000274110	Autosomal-rezessive spinozerebelläre Ataxie, Typ 3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3409921001000111	Autosomal-rezessive spinozerebelläre Ataxie-Blindheit-Schwerhörigkeit-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
592541000274110	Autosomal-rezessive spinozerebelläre Ataxie, Typ 3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3409921001000111	Autosomal-rezessive spinozerebelläre Ataxie-Blindheit-Schwerhörigkeit-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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