733630004: Deficiency of alpha-ketoglutarate dehydrogenase (disorder)

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

\Central nervous system finding\Disorder of the central nervous system (disorder)\Deficiency of alpha-ketoglutarate dehydrogenase (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
\Disease\Metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of lyase\Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of alpha-ketoglutarate dehydrogenase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3472874016 Deficiency of alpha-ketoglutarate dehydrogenase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3472875015 Deficiency of alpha-ketoglutarate dehydrogenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3472876019 Oxoglutaricaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3472877011 A very rare tricarboxylic acid cycle disorder resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4013421000052119 brist på oxoglutaratdehydrogenas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Is a	Disorder of the central nervous system (disorder)	true	Inferred relationship	Some
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Is a	Deficiency of lyase	true	Inferred relationship	Some
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3472874016	Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472875015	Deficiency of alpha-ketoglutarate dehydrogenase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472876019	Oxoglutaricaciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472877011	A very rare tricarboxylic acid cycle disorder resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4013421000052119	brist på oxoglutaratdehydrogenas	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)