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129456006: Specific enzyme deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

636 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
Specific enzyme deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Deficiency of cysteamine dioxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of 4-hydroxyphenylpyruvate dioxygenase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of myo-inositol oxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of kynurenine 3-monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of unspecific monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of steroid 11-beta-monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phenylalanine 4-monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of tryptophan 5-monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of squalene monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of steroid 17-alpha-monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of steroid 21-monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of estradiol 6beta-monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of progesterone 11alpha-monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of ferroxidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of dehydrogenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of oxidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of oxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of monooxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of dioxygenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of reductase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of transferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of aspartate carbamoyltransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of dimethylallyltranstransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of thiamine pyridinylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of methionine adenosyltransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of oximinotransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of methyltransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of transhydroxymethylase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of transformylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of transformiminase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of transcarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of transcarbamoylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of transacylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of aminoacyltransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of glycosyltransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of hexosyltransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of pentosyltransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of amidinotransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of aminotransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphotransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of pyrophosphotransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of sulfurtransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of sulfotransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of coenzyme-A transferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of nucleotidyltransferase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of carboxylesterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of arylesterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of triacylglycerol lipase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phospholipase A>2< Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of lysophospholipase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of acetylesterase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of tropinesterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of cholesterol esterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of chlorophyllase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of uronolactonase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of tannase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of retinyl-palmitate esterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of succinyl-coenzyme A hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of hydroxymethylglutaryl-CoA hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of hydroxyacylglutathione hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of glutathione thiolesterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphoserine phosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphatidate phosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of 5'-nucleotidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of 3'-nucleotidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphoadenylate 3'-nucleotidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of glucose-6-phosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of glucose-1-phosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of fructose-bisphosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of bisphosphoglycerate phosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphoprotein phosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphorylase phosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of nucleotidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of glycerophosphocholine phosphodiesterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phospholipase C Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of glycosulfatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of deoxyribonuclease I Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of deoxyribonuclease II Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of alpha-amylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of beta-amylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of glucan 1,4-alpha-glucosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of cellulase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of endo-1,3(4)-beta-glucanase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of dextranase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of polygalacturonase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of lysozyme Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of sialidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of alpha-glucosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of beta-glucosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of alpha-galactosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of beta-galactosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of alpha-mannosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of beta-fructofuranosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of alpha, alpha-trehalase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of N-acetyl-beta-glucosaminidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of beta-glucuronidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of xylan endo-1,3-beta-xylosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of amylo-1,6-glucosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of hyaluronoglucosaminidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier

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This concept is not in any reference sets

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