1237625002: Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Truncal ataxia\Progressive truncal ataxia\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Cerebellar ataxia\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5100107012	Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100109010	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100110017	SCAR17 - spinocerebellar ataxia autosomal recessive type 17	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100112013	Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5400319011	A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400320017	A rare autosomal recessive cerebellar ataxia characterised by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100107012	Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100109010	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100110017	SCAR17 - spinocerebellar ataxia autosomal recessive type 17	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100112013	Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100113015	A rare autosomal recessive cerebellar ataxia with characteristics of early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor and pyramidal signs among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400319011	A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400320017	A rare autosomal recessive cerebellar ataxia characterised by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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