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

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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
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