154301000146109: klassiek 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)\Classic 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)\Classic 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)\Classic 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)\Classic 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)\Classic 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)\Classic 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)\Classic 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)\Classic 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)\Classic 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)\Classic glucose transporter protein type 1 deficiency syndrome (disorder)
\Disease\Metabolic disease\Metabolic encephalopathy\Glucose transporter protein type 1 deficiency syndrome (disorder)\Classic glucose transporter protein type 1 deficiency syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Classic glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	Glucose transporter protein type 1 deficiency syndrome (disorder)	true	Inferred relationship	Some
Classic glucose transporter protein type 1 deficiency syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1

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
12991011000146117	Classic glucose transporter protein type 1 deficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12991021000146110	Classic glucose transporter protein type 1 deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13009761000146119	klassiek GLUT1DS	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13013211000146113	klassiek GLUT-1-deficiëntiesyndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13013221000146115	klassiek 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)
13013231000146118	klassiek 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)