445252005: deficiëntiesyndroom van glucosetransporter type 1 (aandoening)

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

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

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

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

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

393191000146116 De Vivo-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13000001000146113 GLUT1-deficiëntiesyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13000011000146110 GLUT1DS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13014071000146114 deficiëntiesyndroom van glucosetransporter type 1 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13014081000146111 deficiëntiesyndroom van glucosetransporter type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	Some
Glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Glucose transporter protein type 1 deficiency syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epilepsy due to glucose transporter protein type 1 deficiency syndrome (disorder)	Due to	True	Glucose transporter protein type 1 deficiency syndrome (disorder)	Inferred relationship	Some	2
Classic glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	True	Glucose transporter protein type 1 deficiency syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets