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129456006: Specific enzyme deficiency (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
208206015 Specific enzyme deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
733589015 Specific enzyme deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

629 descendants. Search Descendants:

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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This concept is not in any reference sets

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