29914000: Dihydrolipoamide dehydrogenase deficiency (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Dihydrolipoamide dehydrogenase deficiency
• \Inborn error of metabolism\cétoacidurie à chaines ramifiées\Dihydrolipoamide dehydrogenase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\cétoacidurie à chaines ramifiées\Dihydrolipoamide dehydrogenase deficiency
• \trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\cétoacidurie à chaines ramifiées\Dihydrolipoamide dehydrogenase deficiency
• \trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Dihydrolipoamide dehydrogenase deficiency
• \trouble métabolique\Inborn error of metabolism\cétoacidurie à chaines ramifiées\Dihydrolipoamide dehydrogenase deficiency
• \trouble métabolique\Enzymopathy\cétoacidurie à chaines ramifiées\Dihydrolipoamide dehydrogenase deficiency
• \trouble métabolique\Disorder of acid-base balance\acidose\acidose métabolique\Metabolic acidosis, increased anion gap (disorder)\Metabolic acidosis, increased anion gap, accumulation of organic acids (disorder)\Lactic acidosis\Dihydrolipoamide dehydrogenase deficiency
• \Congenital disease\Inborn error of metabolism\...
• \Disorder of pyruvate metabolism and mitochondrial respiratory chain\Dihydrolipoamide dehydrogenase deficiency
• \cétoacidurie à chaines ramifiées\Dihydrolipoamide dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484421017	Deficiency of diaphorase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484422012	Cytochrome-b reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484423019	Deficiency of dihydrolipoamide dehydrogenase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484425014	Lactic acidosis due to LAD deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484426010	DLD - Dihydrolipoamide dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
484427018	Deficiency of lipoamide reductase (NADH)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484428011	Diaphorase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484429015	Dihydrolipoyl dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484430013	Lipoamide dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
50061010	Dihydrolipoamide dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
50062015	Congenital infantile lactic acidosis due to LAD deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
50063013	Maple syrup urine disease with lactic acidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760861015	Dihydrolipoamide dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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