719253007: Spinocerebellar ataxia type 30 (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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Head finding (finding)\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Cerebellar ataxia\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \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)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.

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
3315692018	Spinocerebellar ataxia type 30 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315693011	Spinocerebellar ataxia type 30	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402025014	An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402026010	An autosomal dominant cerebellar ataxia type III that is characterised by a slowly progressive and relatively pure ataxia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315692018	Spinocerebellar ataxia type 30 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315692018	Spinocerebellar ataxia type 30 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315693011	Spinocerebellar ataxia type 30	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315693011	Spinocerebellar ataxia type 30	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315694017	A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402025014	An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402026010	An autosomal dominant cerebellar ataxia type III that is characterised by a slowly progressive and relatively pure ataxia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3435151001000111	Ataxie, spinozerebelläre, Typ 30	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
875771000172119	ataxie spinocérébelleuse type 30	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996491000172118	SCA30 - spinocerebellar ataxia type 30	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
875771000172119	ataxie spinocérébelleuse type 30	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996491000172118	SCA30 - spinocerebellar ataxia type 30	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435151001000111	Ataxie, spinozerebelläre, Typ 30	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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