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