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129456006: Specific enzyme deficiency (disorder)


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


636 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Specific enzyme deficiency est un(e) (attribut) Enzymopathy true Inferred relationship Some
Specific enzyme deficiency localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Deficiency of amylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 24-hydroxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glycosidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of protease est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of endopeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Multiple carboxylase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aldehyde reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of UDPglucose dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of histidinol dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of quinate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of shikimate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of L-lactate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of D-lactate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 3-hydroxybutyrate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 3-hydroxyisobutyrate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of mevaldate reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA reductase (NADPH) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 3-hydroxyacyl-CoA dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of acetoacetyl-CoA reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of malate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of malate dehydrogenase (oxaloacetate-decarboxylating) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of malate dehydrogenase (decarboxylating) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of isocitrate dehydrogenase (NAD^+^) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphogluconate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphogluconate dehydrogenase (decarboxylating) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of L-gulonate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of L-arabinose dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glucose dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of galactose dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glucose-6-phosphate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 3alpha-hydroxysteroid dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 3beta-hydroxysteroid dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 3alpha-hydroxycholanate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of (R)-20-hydroxysteroid dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of mannitol dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of IMP dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of L-lactate dehydrogenase (cytochrome) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of malate oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glucose oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of hexose oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cholesterol oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of (S)-2-hydroxy-acid oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of xanthine oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of choline dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 2-hydroxyglutarate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of gluconate 2-dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of dehydrogluconate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of D-2-hydroxy-acid dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of uracil dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of formate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aldehyde dehydrogenase (NAD^+^) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of benzaldehyde dehydrogenase (NADP^+^) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of betaine-aldehyde dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glyceraldehyde-3-phosphate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of formaldehyde dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aldehyde oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of oxoglutarate dehydrogenase (lipoamide) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of dihydrouracil dehydrogenase (NAD^+^) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of galactonolactone dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of succinate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of butyryl-CoA dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of acyl-CoA dehydrogenase est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of alanine dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glutamate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of D-aspartate oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of L-amino-acid oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of D-amino-acid oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of pyridoxamine-phosphate oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of amine oxidase (copper-containing) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of pyrroline-2-carboxylate reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of pyrroline-5-carboxylate reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of dihydrofolate reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of nicotinate dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of sarcosine oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of N-methyl-L-amino-acid oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of NAD(P)^+^ transhydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cytochrome-b>5< reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of NADPH-ferrihemoprotein reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of NAPH cytochrome-c>2< reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cystine reductase (NADH) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glutathione reductase (NAD(P)H) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of NADH dehydrogenase (ubiquinon) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of monodehydroascorbate reductase (NADH) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of azobenzene reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of NAD(P)H dehydrogenase (quinone) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of urate oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of nitrate reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of sulfite oxidase est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of glutathione-homocystine transhydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of sulfite reductase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cytochrome-c oxidase est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of catechol oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cytochrome-c peroxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of catalase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of peroxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of iodide peroxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of protocatechuate 3,4-dioxygenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of gentisate 1,2-dioxygenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of tryptophan 2,3-dioxygenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cysteamine dioxygenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some

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