129456006: Specific enzyme deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme 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

208206015 Specific enzyme deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

733589015 Specific enzyme deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

975821000052114 specifik enzymbrist 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
Specific enzyme deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Specific enzyme deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of amylopectin 6-glucanohydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of limit dextrinase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of amylase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of glycosidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of protease	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of endopeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of aldehyde reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of UDPglucose dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of histidinol dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of quinate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of shikimate dehydrogenase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of L-lactate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of D-lactate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of 3-hydroxybutyrate dehydrogenase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of 3-hydroxyisobutyrate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of mevaldate reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA reductase (NADPH)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of acetoacetyl-CoA reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of malate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of malate dehydrogenase (oxaloacetate-decarboxylating)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of malate dehydrogenase (decarboxylating)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of isocitrate dehydrogenase (NAD^+^)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of phosphogluconate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of phosphogluconate dehydrogenase (decarboxylating) (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of L-gulonate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of L-arabinose dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of glucose dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of galactose dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of 3alpha-hydroxysteroid dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of 3beta-hydroxysteroid dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of 3alpha-hydroxycholanate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of (R)-20-hydroxysteroid dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of mannitol dehydrogenase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of IMP dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of L-lactate dehydrogenase (cytochrome)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of malate oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of glucose oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of hexose oxidase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of cholesterol oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of (S)-2-hydroxy-acid oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of xanthine oxidase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of choline dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of 2-hydroxyglutarate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of gluconate 2-dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of dehydrogluconate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of D-2-hydroxy-acid dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of uracil dehydrogenase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of formate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of aldehyde dehydrogenase (NAD^+^)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of benzaldehyde dehydrogenase (NADP^+^)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of betaine-aldehyde dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of glyceraldehyde-3-phosphate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of formaldehyde dehydrogenase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of aldehyde oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of oxoglutarate dehydrogenase (lipoamide)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide ^+^) (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of galactonolactone dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of succinate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of butyryl-CoA dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of acyl-CoA dehydrogenase	Is a	False	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of alanine dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of glutamate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of D-aspartate oxidase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of L-amino-acid oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of D-amino-acid oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of pyridoxamine-phosphate oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of amine oxidase (copper-containing)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of pyrroline-2-carboxylate reductase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of dihydrofolate reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of nicotinate dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of sarcosine oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of N-methyl-L-amino-acid oxidase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of NAD(P)^+^ transhydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of cytochrome-b>5< reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of NADPH-ferrihaemoprotein reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of NAPH cytochrome-c>2< reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of cystine reductase (NADH)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of glutathione reductase (NAD(P)H)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon) (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of monodehydroascorbate reductase (NADH)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of azobenzene reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of NAD(P)H dehydrogenase (quinone)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of urate oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of nitrate reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of sulfite oxidase	Is a	False	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of glutathione-homocystine transhydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of sulfite reductase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of cytochrome-c oxidase	Is a	False	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of catechol oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of cytochrome-c peroxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of catalase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of peroxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of iodide peroxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of protocatechuate 3,4-dioxygenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of gentisate 1,2-dioxygenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of tryptophan 2,3-dioxygenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of cysteamine dioxygenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
208206015	Specific enzyme deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
733589015	Specific enzyme deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
975821000052114	specifik enzymbrist	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)