733630004: Deficiency of alpha-ketoglutarate dehydrogenase (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Disorder of the central nervous system\Deficiency of alpha-ketoglutarate dehydrogenase
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of alpha-ketoglutarate dehydrogenase
• \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
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of alpha-ketoglutarate dehydrogenase
• \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
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of alpha-ketoglutarate dehydrogenase
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Deficiency of alpha-ketoglutarate dehydrogenase
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of alpha-ketoglutarate dehydrogenase
• \Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of lyase\Deficiency of alpha-ketoglutarate dehydrogenase
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of alpha-ketoglutarate dehydrogenase

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3472875015	Deficiency of alpha-ketoglutarate dehydrogenase	en	Synonym	Active	Case insensitive	SNOMED CT core
3472876019	Oxoglutaricaciduria	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

Back to Start