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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
208206015 Specific enzyme deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
4790101000241113 déficit enzymatique spécifique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4790101000241113 déficit enzymatique spécifique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

635 descendants. Search Descendants:

Expanded Value Set

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

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