129456006: Specific enzyme deficiency (disorder)

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

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

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 aconitate hydratase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of enolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of L-serine ammonia-lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of threonine dehydratase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of enoyl-coenzyme A hydratase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of methylglutaconyl-coenzyme A hydratase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of cystathionine beta-synthase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of porphobilinogen synthase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of hyaluronate lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of heparin lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of O-acetylserine (thiol)-lyase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of histidine ammonia-lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of formiminotetrahydrofolate cyclodeaminase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of argininosuccinate lyase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of adenylosuccinate lyase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of cystathionine gamma-lyase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of homocysteine desulfhydrase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of lactoylglutathione lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of carbon-carbon lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of carboxy-lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of aldehyde-lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of oxo-acid-lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of carbon-oxygen lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of hydrolyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of carbon-nitrogen lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of ammonia-lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of carbon-sulfur lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of carbon-halide lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphorus-oxygen lyase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of isomerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of lysine racemase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of lactate racemase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of 3-hydroxybutyryl-coenzyme A epimerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of ribulose-phosphate 3-epimerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of UDPglucose 4-epimerase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of aldose 1-epimerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of maleylacetoacetate isomerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of retinal isomerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of triose-phosphate isomerase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of ribose-5-phosphate isomerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of mannose-6-phosphate isomerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of glucose-6-phosphate isomerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of glucosamine-6-phosphate isomerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phenylpyruvate tautomerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of steroid delta-isomerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of isopentenyl-diphosphate delta-isomerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of lysolecithin acylmutase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphoglycerate mutase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphoglucomutase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphoacetylglucosamine mutase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of bisphosphoglycerate mutase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of methylaspartate mutase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of methylmalonyl-coenzyme A mutase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of epimerase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of racemase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of mutase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of tyrosine-transfer ribonucleic acid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of tryptophan-transfer ribonucleic acid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of threonine-transfer ribonucleic acid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of leucine-transfer ribonucleic acid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of isoleucine-transfer ribonucleic acid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of lysine-transfer ribonucleic acid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of alanine-transfer ribonucleic acid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of valine-transfer ribonucleic acid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of methionine-transfer ribonucleic acid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of serine-transfer ribonucleic acid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of acetate-coenzyme A ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of long-chain-fatty-acid-CoA ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of succinate- coenzyme A ligase (guanosine diphosphate-forming)	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of succinate-coenzyme A ligase (adenosine diphosphate-forming)	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of glutarate-CoA ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of cholate-CoA ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of glutamate-ammonia ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of glutamate-cysteine ligase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of glutathione synthase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphopantothenate-cysteine ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphoribosylaminoimidazole-succinocarboxamide synthase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphoribosylformylglycinamidine cyclo-ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of formate-tetrahydrofolate ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of argininosuccinate synthase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphoribosylamine-glycine ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of nicotinamide adenine dinucleotide ^+^ synthase (glutamine-hydrolysing)	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of guanosine monophosphate synthase (glutamine-hydrolysing)	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphoribosylformylglycinamidine synthase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of pyruvate carboxylase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of acetyl-CoA carboxylase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of propionyl-coenzyme A carboxylase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of methylcrotonoyl-coenzyme A carboxylase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of acid-ammonia ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of acid-aminoacid ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of true cholinesterase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of choline esterase I	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of acetylcholinesterase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of butyrylcholine esterase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of benzoylcholinesterase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of cholinesterase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of butyrylcholinesterase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of choline esterase II (unspecific)	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of pectin methylesterase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of pectinesterase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier

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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