1255323007: Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of coordination\Ataxia\Hereditary ataxia (disorder)\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Metabolic disease\Chronic metabolic disorder\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of glutamine metabolism\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Chronic disease\Chronic metabolic disorder\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Spastic ataxia, dysarthria due to glutaminase deficiency
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Spastic ataxia, dysarthria due to glutaminase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5146466015	Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5146467012	Spastic ataxia, dysarthria due to glutaminase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400378014	A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400379018	A rare genetic neurometabolic disease characterised by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5146466015	Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5146467012	Spastic ataxia, dysarthria due to glutaminase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5146468019	A rare genetic neurometabolic disease with characteristics of childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation and elevated plasma levels of glutamine. Optic atrophy, tremor and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400378014	A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400379018	A rare genetic neurometabolic disease characterised by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.	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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