29914000: deficiëntie van dihydrolipoamidedehydrogenase (aandoening)

SNOMED CT Concept\Clinical finding (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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\...

\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Dihydrolipoamide dehydrogenase deficiency

\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\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\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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dihydrolipoamide dehydrogenase deficiency	Is a	Maple syrup urine disease	true	Inferred relationship	Some
Dihydrolipoamide dehydrogenase deficiency	Is a	Lactic acidosis	true	Inferred relationship	Some
Dihydrolipoamide dehydrogenase deficiency	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	true	Inferred relationship	Some
Dihydrolipoamide dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Dihydrolipoamide dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

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
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
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
760861015	Dihydrolipoamide dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
215721000146111	dihydrolipoamidedehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
215741000146117	deficiëntie van dihydrolipoamidedehydrogenase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
215761000146116	DLD-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
215771000146110	deficiëntie van dihydrolipoamidedehydrogenase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)