719209002: spinocerebellaire ataxie type 13 (aandoening)

• 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\Spinocerebellar ataxia type 13 (disorder)
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \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\Spinocerebellar ataxia type 13 (disorder)
• \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\Spinocerebellar ataxia type 13 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Disorder 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\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Disorder 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\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 13 (disorder)

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
3315423013	Spinocerebellar ataxia type 13 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315424019	Spinocerebellar ataxia type 13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6162461000146115	spinocerebellaire ataxie type 13	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6162471000146114	spinocerebellaire ataxie type 13 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6162481000146111	SCA13	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3315425018	A very rare disease with onset in childhood of marked delayed motor and cognitive development followed by mild progression of cerebellar ataxia. Prevalence is unknown. Fewer than 20 cases have been reported to date. Although primarily a cerebellar syndrome, dysphagia, urinary urgency and bradykinesia have been described in affected patients older than 50. Mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene.	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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