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

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