129456006: Specific enzyme deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency

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

Descriptions:

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

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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
5817421000172114	déficit enzymatique spécifique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5029561000172118	deficiëntie van specifiek enzym	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)