29914000: Dihydrolipoamide dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Disorder of pyruvate metabolism and mitochondrial respiratory chain\Dihydrolipoamide dehydrogenase deficiency
• \Maple syrup urine disease\Dihydrolipoamide dehydrogenase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maple syrup urine disease\Dihydrolipoamide dehydrogenase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Dihydrolipoamide dehydrogenase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Dihydrolipoamide dehydrogenase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Maple syrup urine disease\Dihydrolipoamide dehydrogenase deficiency
• \Metabolic disease\Enzymopathy\Maple syrup urine disease\Dihydrolipoamide dehydrogenase deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidosis\Metabolic acidosis\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Lactic acidosis\Dihydrolipoamide dehydrogenase deficiency
• \Congenital disease\Inborn error of metabolism\...
• \Disorder of pyruvate metabolism and mitochondrial respiratory chain\Dihydrolipoamide dehydrogenase deficiency
• \Maple syrup urine disease\Dihydrolipoamide dehydrogenase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
196762013	Maple syrup urine disease, type III	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
484421017	Deficiency of diaphorase	en	Synonym	Active	Case insensitive	SNOMED CT core
484422012	Cytochrome-b reductase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
484423019	Deficiency of dihydrolipoamide dehydrogenase	en	Synonym	Active	Case insensitive	SNOMED CT core
484425014	Lactic acidosis due to LAD deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
484426010	DLD - Dihydrolipoamide dehydrogenase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
484427018	Deficiency of lipoamide reductase (NADH)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
484428011	Diaphorase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
484429015	Dihydrolipoyl dehydrogenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
484430013	Lipoamide dehydrogenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
50061010	Dihydrolipoamide dehydrogenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
50062015	Congenital infantile lactic acidosis due to LAD deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
50063013	Maple syrup urine disease with lactic acidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
760861015	Dihydrolipoamide dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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