785301002: autosomaal recessieve traag progressieve spinocerebellaire ataxie beginnend op kinderleeftijd (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3766838017	Autosomal recessive spinocerebellar ataxia type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766839013	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766840010	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766841014	SCAR7 - autosomal recessive spinocerebellar ataxia type 7	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
8227951000146112	autosomaal recessieve traag progressieve spinocerebellaire ataxie beginnend op kinderleeftijd	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8227961000146110	autosomaal recessieve traag progressieve spinocerebellaire ataxie beginnend op kinderleeftijd (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8227991000146117	autosomaal recessieve spinocerebellaire ataxie type 7	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8896751000146110	ARCA16	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3766842019	A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15.	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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