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

SNOMED CT Concept\Clinical finding\...

\Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\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\Hereditary disorder of nervous system\Hereditary ataxia\Spastic ataxia, dysarthria due to glutaminase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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 body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spastic ataxia, dysarthria due to glutaminase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Spastic ataxia, dysarthria due to glutaminase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Spastic ataxia, dysarthria due to glutaminase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Spastic ataxia, dysarthria due to glutaminase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system 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 of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of glutamine metabolism\Spastic ataxia, dysarthria due to glutaminase deficiency
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\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\Spastic ataxia, dysarthria due to glutaminase deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Spastic ataxia, dysarthria due to glutaminase deficiency
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Spastic ataxia, dysarthria due to glutaminase deficiency

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

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 SNOMED CT core module

5146467012 Spastic ataxia, dysarthria due to glutaminase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spastic ataxia, dysarthria due to glutaminase deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency	Is a	Chronic nervous system disorder	true	Inferred relationship	Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency	Is a	Chronic metabolic disorder	true	Inferred relationship	Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency	Is a	Disorder of glutamine metabolism	true	Inferred relationship	Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Spastic ataxia, dysarthria due to glutaminase deficiency	Due to	Deficiency of glutaminase	true	Inferred relationship	Existential restriction modifier	5
Spastic ataxia, dysarthria due to glutaminase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spastic ataxia, dysarthria due to glutaminase deficiency	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	3
Spastic ataxia, dysarthria due to glutaminase deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
5146467012	Spastic ataxia, dysarthria due to glutaminase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module