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:

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

975821000052114 specifik enzymbrist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

Start Previous Page 4 of 5 End

This concept is not in any reference sets

Back to Start

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
975821000052114	specifik enzymbrist	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)