445252005: Glucose transporter protein type 1 deficiency syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Glucose transporter protein type 1 deficiency syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Glucose transporter protein type 1 deficiency syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Glucose transporter protein type 1 deficiency syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Glucose transporter protein type 1 deficiency syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Glucose transporter protein type 1 deficiency syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Glucose transporter protein type 1 deficiency syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Glucose transporter protein type 1 deficiency syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Glucose transporter protein type 1 deficiency syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Glucose transporter protein type 1 deficiency syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Glucose transporter protein type 1 deficiency syndrome (disorder)
\Disease\Metabolic disease\Metabolic encephalopathy\Glucose transporter protein type 1 deficiency syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	Metabolic encephalopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose transporter protein type 1 deficiency syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epilepsy due to glucose transporter protein type 1 deficiency syndrome	Due to	True	Glucose transporter protein type 1 deficiency syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2869027015	Glucose transporter protein type 1 deficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2872335013	Glucose transporter protein type 1 deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2869027015	Glucose transporter protein type 1 deficiency syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2869027015	Glucose transporter protein type 1 deficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2872335013	Glucose transporter protein type 1 deficiency syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2872335013	Glucose transporter protein type 1 deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3394831001000111	Klassisches Glukosetransporter-Typ-1-Mangel-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5945001000241114	syndrome de déficit en transporteur du glucose de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5945011000241111	encéphalopathie par déficit en GLUT1 (glucose transporter 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5945021000241116	maladie de De Vivo	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5945001000241114	syndrome de déficit en transporteur du glucose de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5945011000241111	encéphalopathie par déficit en GLUT1 (glucose transporter 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5945021000241116	maladie de De Vivo	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394831001000111	Klassisches Glukosetransporter-Typ-1-Mangel-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module