723441001: Non-progressive cerebellar ataxia with intellectual disability (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Non-progressive cerebellar ataxia with intellectual disability (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Non-progressive cerebellar ataxia with intellectual disability (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424625017	Non-progressive cerebellar ataxia with intellectual disability (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424626016	Non-progressive cerebellar ataxia with intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403057016	A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403058014	A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterised by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424625017	Non-progressive cerebellar ataxia with intellectual disability (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424626016	Non-progressive cerebellar ataxia with intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424627013	Disease with characteristics of the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and in later life intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). Caused by heterozygous disruption of the CAMTA1 gene on chromosome 1p36.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403057016	A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403058014	A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterised by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451721001000119	Zerebelläre Ataxie, nicht-progressive, mit Intelligenzminderung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1017241000172118	ataxie cérébelleuse non progressive avec déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1017241000172118	ataxie cérébelleuse non progressive avec déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451721001000119	Zerebelläre Ataxie, nicht-progressive, mit Intelligenzminderung	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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