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129456006: Specific enzyme deficiency (disorder)


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


636 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Specific enzyme deficiency est un(e) (attribut) Enzymopathy true Inferred relationship Some
Specific enzyme deficiency localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some

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

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