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129456006: Specific enzyme deficiency (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
208206015 Specific enzyme deficiency en Synonym Active Case insensitive SNOMED CT core
733589015 Specific enzyme deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

637 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 amylase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of 24-hydroxylase 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
Multiple carboxylase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of aldehyde reductase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of uridine diphosphate-glucose 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 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 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-coenzyme A reductase (reduced nicotinamide adenine dinucleotide phosphate) Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of 3-hydroxyacyl-CoA dehydrogenase 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) 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 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 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 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 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 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 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 ^+^) 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 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 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 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) 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 sulphite 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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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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