Specific enzyme deficiency   129456006

SNOMED CT code


SNOMED code129456006
nameSpecific enzyme deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Specific enzyme deficiency (disorder)
synonymsSpecific enzyme deficiency
parentsEnzymopathy   78548001
children
  • 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency   725286002
  • Acetyl-CoA carboxylase deficiency   4920001
  • Adenosine deaminase deficiency   44940001
  • Adenylosuccinate lyase deficiency   15285008
  • Adult G6PD deficiency of leukocytes syndrome   129645002
  • Arginase deficiency   23501004
  • Argininosuccinate lyase deficiency   41013004
  • Coenzyme Q10 deficiency   724575009
  • Cystathionine beta-synthase deficiency   24308003
  • Cystathionine gamma-lyase deficiency   6885006
  • Cytochrome p450 enzyme deficiency   424224001
  • Deficiency of (R)-20-hydroxysteroid dehydrogenase   124138004
  • Deficiency of (S)-2-hydroxy-acid oxidase   124146003
  • Deficiency of 2-hydroxyglutarate dehydrogenase   124149005
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase   444838008
  • Deficiency of 24-hydroxylase   870383008
  • Deficiency of 3'-nucleotidase   124435007
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase   124122005
  • Deficiency of 3-hydroxybutyrate dehydrogenase   124118000
  • Deficiency of 3-hydroxybutyryl-CoA epimerase   124660002
  • Deficiency of 3-hydroxyisobutyrate dehydrogenase   124119008
  • Deficiency of 3-hydroxyisobutyryl CoA hydrolase   124427009
  • Deficiency of 3alpha-hydroxycholanate dehydrogenase   124137009
  • Deficiency of 3alpha-hydroxysteroid dehydrogenase   124135001
  • Deficiency of 3beta-hydroxysteroid dehydrogenase   124136000
  • Deficiency of 4-hydroxy-2-oxoglutarate aldolase   124614004
  • Deficiency of 4-hydroxyphenylpyruvate dioxygenase   124210003  removed: 2004-01-31
  • Deficiency of 5'-nucleotidase   124434006
  • Deficiency of A-ase   361086006  removed: 2023-12-01
  • Deficiency of acetate-CoA ligase   124698002
  • Deficiency of acetoacetyl-CoA reductase   124123000
  • Deficiency of acetyl-CoA acylase   360721004
  • Deficiency of acetyl-CoA carboxylase   124717004  removed: 2004-07-31
  • Deficiency of acetyl-CoA deacylase   360709003
  • Deficiency of acetyl-CoA hydrolase   360733009
  • Deficiency of acetylcholinesterase   360586005
  • Deficiency of acetylesterase   124413004  removed: 2002-07-31
  • Deficiency of acetylesterase   371316005
  • Deficiency of acid-aminoacid ligase   124723009
  • Deficiency of acid-ammonia ligase   124721006
  • Deficiency of aconitate hydratase   124617006
  • Deficiency of acyl-CoA dehydrogenase   124167003  removed: 2004-07-31
  • Deficiency of acylphosphatase   124533003
  • Deficiency of adenine deaminase   124521008
  • Deficiency of adenosine deaminase   124523006  removed: 2004-07-31
  • Deficiency of adenosinetriphosphatase   124531001
  • Deficiency of adenosylhomocysteinase   124481007
  • Deficiency of adenylosuccinate lyase   124631006  removed: 2004-07-31
  • Deficiency of ADP deaminase   124526003
  • Deficiency of alanine dehydrogenase   124168008
  • Deficiency of alanine-tRNA ligase   124694000
  • Deficiency of aldehyde dehydrogenase (NAD^+^)   124155000
  • Deficiency of aldehyde oxidase   124161002
  • Deficiency of aldehyde reductase   124109002
  • Deficiency of aldehyde-lyase   124640005
  • Deficiency of aldonolactonase   360686003
  • Deficiency of aldose 1-epimerase   124663000
  • Deficiency of alkaline phosphatase   360792001
  • Deficiency of alkaline phosphomonoesterase   360781002
  • Deficiency of alkylhalidase   361089004
  • Deficiency of allantoicase   124519003
  • Deficiency of allantoinase   124517001
  • Deficiency of alpha, alpha-trehalase   124468000  removed: 2004-07-31
  • Deficiency of alpha- and beta-trypsin   361058003
  • Deficiency of alpha-aminoacylpeptide hydrolase   124565000
  • Deficiency of alpha-amylase   124452006
  • Deficiency of alpha-galactosidase   124464003
  • Deficiency of alpha-glucosidase   124462004
  • Deficiency of alpha-mannosidase   124466001
  • Deficiency of amidase   124509009
  • Deficiency of amidinotransferase   124392007
  • Deficiency of amine oxidase   361093005
  • Deficiency of amine oxidase (copper-containing)   124175009
  • Deficiency of aminoacyl-histidine dipeptidase   360953004
  • Deficiency of aminoacylase 1   709282004
  • Deficiency of aminoacyltransferase   124384003
  • Deficiency of aminopeptidase   360932008
  • Deficiency of aminotransferase   124394008
  • Deficiency of ammonia-lyase   124650006
  • Deficiency of AMP deaminase   124525004
  • Deficiency of AMP nucleosidase   124478002
  • Deficiency of amylase   302250008
  • Deficiency of amylo-1,6-glucosidase   124472001
  • Deficiency of amylopectin 6-glucanohydrolase   272064009
  • Deficiency of arginase   124518006  removed: 2004-07-31
  • Deficiency of arginine deiminase   124520009
  • Deficiency of argininosuccinate lyase   124630007  removed: 2004-07-31
  • Deficiency of argininosuccinate synthase   124711003
  • Deficiency of aromatic-L-amino-acid decarboxylase   124600004
  • Deficiency of arylesterase   124409006
  • Deficiency of arylsulfatase   360834005
  • Deficiency of asparaginase   361087002
  • Deficiency of aspartate 4-decarboxylase   124595008
  • Deficiency of aspartate carbamoyltransferase   124248008
  • Deficiency of aspartic proteinase   124589007
  • Deficiency of ATP pyrophosphatase   124534009
  • Deficiency of azobenzene reductase   124191007
  • Deficiency of benzaldehyde dehydrogenase (NADP^+^)   124156004
  • Deficiency of benzoylcholinesterase   360597005  removed: 2023-12-01
  • Deficiency of beta-amylase   124453001
  • Deficiency of beta-fructofuranosidase   124467005
  • Deficiency of beta-galactosidase   124465002
  • Deficiency of beta-glucosidase   124463009
  • Deficiency of beta-glucuronidase   124470009
  • Deficiency of beta-ureidopropionase   124511000
  • Deficiency of betaine-aldehyde dehydrogenase   124157008
  • Deficiency of biotinidase   124513002  removed: 2003-07-31
  • Deficiency of bisphosphoglycerate mutase   124678007
  • Deficiency of bisphosphoglycerate phosphatase   124440004
  • Deficiency of butyryl-CoA dehydrogenase   124166007
  • Deficiency of butyrylcholine esterase   360589003  removed: 2021-01-31
  • Deficiency of butyrylcholinesterase   360619001
  • Deficiency of carbon-carbon lyase   124636001
  • Deficiency of carbon-halide lyase   124654002
  • Deficiency of carbon-nitrogen lyase   124648003
  • Deficiency of carbon-oxygen lyase   124644001
  • Deficiency of carbon-sulfur lyase   124652003
  • Deficiency of carbonate dehydratase   124615003
  • Deficiency of carboxy-lyase   124638000
  • Deficiency of carboxylesterase   124408003
  • Deficiency of carboxylic ester hydrolase   124541003
  • Deficiency of carboxypeptidase A   124492008
  • Deficiency of carboxypeptidase B   124493003
  • Deficiency of carnosinase   360943000
  • Deficiency of catalase   124202004
  • Deficiency of catechol oxidase   124200007
  • Deficiency of cathepsin C   361017005
  • Deficiency of cathepsin D   720831008
  • Deficiency of cellulase   124455008
  • Deficiency of chlorophyllase   124419000
  • Deficiency of cholate-CoA ligase   124703008
  • Deficiency of cholesterol esterase   124418008
  • Deficiency of cholesterol oxidase   124145004
  • Deficiency of choline dehydrogenase   124148002
  • Deficiency of choline esterase I   360579002  removed: 2023-11-01
  • Deficiency of choline esterase II (unspecific)   360631004
  • Deficiency of cholinesterase   360607009  removed: 2020-01-31
  • Deficiency of chymosin   124503005
  • Deficiency of chymotrypsin   361051009
  • Deficiency of chymotrypsin A and B   361043006
  • Deficiency of citrate(si)-synthase   124613005
  • Deficiency of coenzyme-A transferase   124404001
  • Deficiency of cystathionine beta-synthase   124623001  removed: 2004-07-31
  • Deficiency of cystathionine gamma-lyase   124632004  removed: 2004-07-31
  • Deficiency of cysteamine dioxygenase   124209008
  • Deficiency of cysteine carboxypeptidase   124581005
  • Deficiency of cysteine proteinase   124587009
  • Deficiency of cysteinyl-glycine dipeptidase   124486002
  • Deficiency of cystine reductase (NADH)   124187002
  • Deficiency of cytidine deaminase   124524000
  • Deficiency of cytochrome-b>5< reductase   124184009
  • Deficiency of cytochrome-c oxidase   124199009  removed: 2003-01-31
  • Deficiency of cytochrome-c peroxidase   124201006
  • Deficiency of cytosol aminopeptidase   360910004  removed: 2023-12-01
  • Deficiency of cytosol non-specific dipeptidase   360959000
  • Deficiency of D-2-hydroxy-acid dehydrogenase   124152002
  • Deficiency of D-amino-acid oxidase   124172007
  • Deficiency of D-aspartate oxidase   124170004
  • Deficiency of D-lactate dehydrogenase   124116001
  • Deficiency of dehydrogenase   124226002
  • Deficiency of dehydrogluconate dehydrogenase   124151009
  • Deficiency of deoxyribonuclease I   124450003
  • Deficiency of deoxyribonuclease II   124451004
  • Deficiency of dextranase   124458005
  • Deficiency of dihydrofolate reductase   124178006
  • Deficiency of dihydroorotase   124516005
  • Deficiency of dihydropyrimidinase   124515009  removed: 2004-07-31
  • Deficiency of dihydrouracil dehydrogenase (NAD^+^)   124163004
  • Deficiency of diisopropyl-fluorophosphatase   124538007
  • Deficiency of dimethylallyltranstransferase   124281009
  • Deficiency of dimethylglycine dehydrogenase   719449007
  • Deficiency of dioxygenase   124234008
  • Deficiency of dipeptidase   124489009
  • Deficiency of dipeptide hydrolase   124567008
  • Deficiency of dipeptidyl peptidase I   361026008  removed: 2020-07-31
  • Deficiency of dipeptidyl-amino-peptidase I   361036000  removed: 2020-07-31
  • Deficiency of dipeptidylpeptide hydrolase   124569006
  • Deficiency of diphosphomevalonate decarboxylase   124604008
  • Deficiency of diphosphoric monoester hydrolase   124553004
  • Deficiency of endo-1,3(4)-beta-glucanase   124456009
  • Deficiency of endopeptidase   303096003
  • Deficiency of endoribonuclease   124577005
  • Deficiency of enolase   124618001
  • Deficiency of enoyl-CoA hydratase   124621004
  • Deficiency of enteropeptidase   124498007
  • Deficiency of epimerase   124682009
  • Deficiency of estradiol 6beta-monooxygenase   124222000
  • Deficiency of ether hydrolase   124561009
  • Deficiency of exoribonuclease   124575002
  • Deficiency of ferroxidase   124224004
  • Deficiency of formaldehyde dehydrogenase   124159006
  • Deficiency of formamidase   124514008
  • Deficiency of formate dehydrogenase   124154001
  • Deficiency of formate-tetrahydrofolate ligase   124710002
  • Deficiency of formiminotetrahydrofolate cyclodeaminase   124629002
  • Deficiency of formyltetrahydrofolate deformylase   124512007
  • Deficiency of fructose-bisphosphatase   124439001
  • Deficiency of fructose-bisphosphate aldolase   124608006
  • Deficiency of fumarate hydratase   124616002  removed: 2023-12-01
  • Deficiency of fumarylacetoacetase   124536006
  • Deficiency of galactonolactone dehydrogenase   124164005
  • Deficiency of galactose dehydrogenase   124133008
  • Deficiency of gentisate 1,2-dioxygenase   124206001
  • Deficiency of glucan 1,3-alpha-glucosidase   124476003
  • Deficiency of glucan 1,4-alpha-glucosidase   124454007
  • Deficiency of gluconate 2-dehydrogenase   124150005
  • Deficiency of gluconolactonase   360697003
  • Deficiency of glucosamine-6-phosphate isomerase   124670000
  • Deficiency of glucose dehydrogenase   124132003
  • Deficiency of glucose oxidase   124143006
  • Deficiency of glucose-1-phosphatase   124438009
  • Deficiency of glucose-6-phosphatase   124437004
  • Deficiency of glucose-6-phosphate dehydrogenase   124134002
  • Deficiency of glucose-6-phosphate isomerase   124669001
  • Deficiency of glucosyltransferase 1   712641002
  • Deficiency of glutamate decarboxylase   124596009
  • Deficiency of glutamate dehydrogenase   124169000
  • Deficiency of glutamate-ammonia ligase   124704002
  • Deficiency of glutamate-cysteine ligase   124705001  removed: 2004-07-31
  • Deficiency of glutaminase   124507006
  • Deficiency of glutarate-CoA ligase   124702003
  • Deficiency of glutathione reductase (NAD(P)H)   124188007
  • Deficiency of glutathione synthase   124706000
  • Deficiency of glutathione thiolesterase   124430002
  • Deficiency of glutathione-homocystine transhydrogenase   124197006
  • Deficiency of glyceraldehyde-3-phosphate dehydrogenase   124158003
  • Deficiency of glycerophosphatase   360771001
  • Deficiency of glycerophosphocholine phosphodiesterase   124444008
  • Deficiency of glycosidase   302661005
  • Deficiency of glycosulfatase   124448006
  • Deficiency of glycosyltransferase   124386001
  • Deficiency of GMP synthase (glutamine-hydrolysing)   124714006
  • Deficiency of guanine deaminase   124522001
  • Deficiency of halogenase   361088007  removed: 2023-11-01
  • Deficiency of heparin lyase   124626009
  • Deficiency of hexose oxidase   124144000
  • Deficiency of hexosyltransferase   124388000
  • Deficiency of histidine ammonia-lyase   124628005
  • Deficiency of histidine decarboxylase   124598005
  • Deficiency of histidinol dehydrogenase   124111006
  • Deficiency of homocysteine desulfhydrase   124633009
  • Deficiency of hyaluronate lyase   124625008
  • Deficiency of hyaluronoglucosaminidase   124473006
  • Deficiency of hydrolase   124407008
  • Deficiency of hydrolyase   124646004
  • Deficiency of hydroxyacylglutathione hydrolase   124429007
  • Deficiency of hydroxymethylglutaryl-CoA hydrolase   124428004
  • Deficiency of hydroxymethylglutaryl-CoA lyase   124611007
  • Deficiency of hydroxymethylglutaryl-CoA reductase (NADPH)   124121003
  • Deficiency of hydroxymethylglutaryl-CoA synthase   124612000
  • Deficiency of imidodipeptidase   360969006  removed: 2023-12-01
  • Deficiency of iminodipeptidase   361001004  removed: 2023-12-01
  • Deficiency of IMP cyclohydrolase   124528002
  • Deficiency of IMP dehydrogenase   124140009
  • Deficiency of inorganic pyrophosphatase   124529005
  • Deficiency of inosinase   360866000
  • Deficiency of inosine nucleosidase   360878001
  • Deficiency of iodide peroxidase   124204003
  • Deficiency of isobutyryl-CoA dehydrogenase   445274004
  • Deficiency of isocitrate dehydrogenase (NAD^+^)   124127004
  • Deficiency of isocitrate lyase   124609003
  • Deficiency of isoleucine-tRNA ligase   124692001
  • Deficiency of isomaltase   360854006
  • Deficiency of isomerase   124657009
  • Deficiency of isopentenyl-diphosphate delta-isomerase   124673003
  • Deficiency of ketotetrose-phosphate aldolase   124605009
  • Deficiency of kynurenine 3-monooxygenase   124212006
  • Deficiency of L-amino-acid oxidase   124171000
  • Deficiency of L-arabinose dehydrogenase   124131005
  • Deficiency of L-gulonate dehydrogenase   124130006
  • Deficiency of L-lactate dehydrogenase   124115002
  • Deficiency of L-lactate dehydrogenase (cytochrome)   124141008
  • Deficiency of L-prolylglycine dipeptidase   360979008  removed: 2023-12-01
  • Deficiency of L-serine ammonia-lyase   124619009
  • Deficiency of lactate racemase   124659007
  • Deficiency of lactonase   360675000
  • Deficiency of lactoylglutathione lyase   124634003
  • Deficiency of lecithinase D   360804000
  • Deficiency of leucine aminopeptidase   360902000
  • Deficiency of leucine-tRNA ligase   124691008
  • Deficiency of leukotriene C4 synthase   717185008
  • Deficiency of lichenase   124475004
  • Deficiency of ligase   124687003
  • Deficiency of limit dextrinase   272938000
  • Deficiency of lipophosphodiesterase II   360800009
  • Deficiency of long-chain fatty-acyl-CoA hydrolase   360745000
  • Deficiency of long-chain-fatty-acid-CoA ligase   124699005
  • Deficiency of lyase   124592006
  • Deficiency of lysine racemase   124658004
  • Deficiency of lysine-tRNA ligase   124693006
  • Deficiency of lysolecithin acylmutase   124674009
  • Deficiency of lysophospholipase   124412009
  • Deficiency of lysozyme   124460007
  • Deficiency of malate dehydrogenase   124124006
  • Deficiency of malate dehydrogenase (decarboxylating)   124126008
  • Deficiency of malate dehydrogenase (oxaloacetate-decarboxylating)   124125007
  • Deficiency of malate oxidase   124142001
  • Deficiency of maleylacetoacetate isomerase   124664006
  • Deficiency of malonyl-CoA decarboxylase   124594007
  • Deficiency of mannitol dehydrogenase   124139007
  • Deficiency of mannose-6-phosphate isomerase   124668009
  • Deficiency of metallocarboxypeptidase   124579008
  • Deficiency of metalloproteinase   124591004
  • Deficiency of methenyltetrahydrofolate cyclohydrolase   124527007
  • Deficiency of methionine adenosyltransferase   124283007
  • Deficiency of methionine-tRNA ligase   124696003
  • Deficiency of methylaspartate mutase   124679004
  • Deficiency of methylcrotonoyl-CoA carboxylase   124719001  removed: 2017-01-31
  • Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^)   124179003
  • Deficiency of methylglutaconyl-CoA hydratase   124622006
  • Deficiency of methylmalonyl-CoA mutase   124680001
  • Deficiency of methylmalonyl-coenzyme A epimerase   1293018007
  • Deficiency of methyltransferase   124370008
  • Deficiency of mevaldate reductase   124120002
  • Deficiency of mitochondrial aspartyl-tRNA synthetase   735422006
  • Deficiency of monodehydroascorbate reductase (NADH)   124190008
  • Deficiency of monooxygenase   124232007
  • Deficiency of mutase   124686007
  • Deficiency of myo-inositol oxygenase   124211004
  • Deficiency of N-acetyl-beta-glucosaminidase   124469008
  • Deficiency of N-acetylneuraminate lyase   124610008
  • Deficiency of N-methyl-L-amino-acid oxidase   124182008
  • Deficiency of NAD(P)^+^ nucleosidase   124480008
  • Deficiency of NAD(P)^+^ transhydrogenase   124183003
  • Deficiency of NAD(P)H dehydrogenase (quinone)   124192000
  • Deficiency of NAD^+^ nucleosidase   360887005
  • Deficiency of NAD^+^ synthase (glutamine-hydrolysing)   124713000
  • Deficiency of NADase   360892007
  • Deficiency of NADH dehydrogenase (ubiquinon)   124189004
  • Deficiency of NADPH-ferrihemoprotein reductase   124185005
  • Deficiency of NAPH cytochrome-c>2< reductase   124186006
  • Deficiency of nicotinate dehydrogenase   124180000
  • Deficiency of nitrate reductase   124194004
  • Deficiency of nucleosidase   124557003
  • Deficiency of nucleoside-diphosphatase   124532008
  • Deficiency of nucleotidase   124443002
  • Deficiency of nucleotide pyrophosphatase   124535005
  • Deficiency of nucleotidyltransferase   124406004
  • Deficiency of O-acetylserine (thiol)-lyase   124627000  removed: 2015-07-31
  • Deficiency of omega peptidase   124583008
  • Deficiency of oxidase   124228001
  • Deficiency of oximinotransferase   124296008
  • Deficiency of oxo-acid-lyase   124642002
  • Deficiency of oxoglutarate dehydrogenase (lipoamide)   124162009
  • Deficiency of oxygenase   124230004
  • Deficiency of palmitoyl-CoA hydrolase   360757009
  • Deficiency of pancreatic elastase   124499004
  • Deficiency of pantothenoylcysteine decarboxylase   124602007
  • Deficiency of pectin methoxylase   360664004
  • Deficiency of pectin methylesterase   360642008
  • Deficiency of pectinesterase   360653002
  • Deficiency of pentosyltransferase   124390004
  • Deficiency of pepsin A   124501007
  • Deficiency of pepsin B   124502000
  • Deficiency of peptidase a   360921008
  • Deficiency of peptide hydrolase   124563007
  • Deficiency of peptidoglycan endopeptidase   124505003
  • Deficiency of peroxidase   124203009
  • Deficiency of phenylalanine 4-monooxygenase   124215008
  • Deficiency of phenylpyruvate tautomerase   124671001
  • Deficiency of phosphatase   361090008
  • Deficiency of phosphatidate phosphatase   124433000
  • Deficiency of phosphoacetylglucosamine mutase   124677002
  • Deficiency of phosphoadenylate 3'-nucleotidase   124436008
  • Deficiency of phosphoamidase   124539004
  • Deficiency of phosphoenolpyruvate carboxykinase (GTP)   124603002  removed: 2004-07-31
  • Deficiency of phosphoglucomutase   124676006
  • Deficiency of phosphogluconate dehydrogenase   124128009
  • Deficiency of phosphogluconate dehydrogenase (decarboxylating)   124129001
  • Deficiency of phosphoglycerate mutase   124675005
  • Deficiency of phosphoketolase   124607001
  • Deficiency of phospholipase A>2<   124411002
  • Deficiency of phospholipase C   124445009
  • Deficiency of phospholipase D   360812008
  • Deficiency of phosphomannomutase 2   712640001
  • Deficiency of phosphomonoesterase   360763000
  • Deficiency of phosphopantothenate-cysteine ligase   124707009
  • Deficiency of phosphoprotein phosphatase   124441000
  • Deficiency of phosphoribosylamine-glycine ligase   124712005
  • Deficiency of phosphoribosylaminoimidazole carboxylase   124597000
  • Deficiency of phosphoribosylaminoimidazole-succinocarboxamide synthase   124708004
  • Deficiency of phosphoribosylformylglycinamidine cyclo-ligase   124709007
  • Deficiency of phosphoribosylformylglycinamidine synthase   124715007
  • Deficiency of phosphoric diester hydrolase   124547004
  • Deficiency of phosphoric monoester hydrolase   361091007
  • Deficiency of phosphorus-oxygen lyase   124656000
  • Deficiency of phosphorylase phosphatase   124442007
  • Deficiency of phosphoserine phosphatase   124432005
  • Deficiency of phosphotransferase   124396005
  • Deficiency of plasmin   124497002
  • Deficiency of polygalacturonase   124459002
  • Deficiency of porphobilinogen synthase   124624007  removed: 2004-07-31
  • Deficiency of progesterone 11alpha-monooxygenase   124223005
  • Deficiency of prolyl dipeptidase   360987009  removed: 2023-12-01
  • Deficiency of propionyl-CoA carboxylase   124718009
  • Deficiency of protease   302736004
  • Deficiency of protocatechuate 3,4-dioxygenase   124205002
  • Deficiency of pyridoxamine-phosphate oxidase   124174008
  • Deficiency of pyrophosphotransferase   124398006
  • Deficiency of pyrroline-2-carboxylate reductase   124176005
  • Deficiency of pyrroline-5-carboxylate reductase   124177001
  • Deficiency of pyruvate carboxylase   124716008  removed: 2004-01-31
  • Deficiency of pyruvate decarboxylase   124593001
  • Deficiency of quinate dehydrogenase   124112004
  • Deficiency of racemase   124684005
  • Deficiency of reductase   124236005
  • Deficiency of renin   124504004
  • Deficiency of retinal isomerase   124665007
  • Deficiency of retinyl-palmitate esterase   124423008
  • Deficiency of ribonuclease   124573009
  • Deficiency of ribose-5-phosphate isomerase   124667004
  • Deficiency of ribosomal cathepsin   361082008
  • Deficiency of ribosomal neutral proteinase   361075009
  • Deficiency of ribulose-phosphate 3-epimerase   124661003
  • Deficiency of sarcosine oxidase   124181001
  • Deficiency of serine carboxypeptidase   124491001
  • Deficiency of serine proteinase   124585001
  • Deficiency of serine-tRNA ligase   124697007
  • Deficiency of shikimate dehydrogenase   124113009
  • Deficiency of sialidase   124461006
  • Deficiency of squalene monooxygenase   124219002
  • Deficiency of steroid 11-beta-monooxygenase   124214007
  • Deficiency of steroid 17-alpha-monooxygenase   124220008
  • Deficiency of steroid 21-monooxygenase   124221007
  • Deficiency of steroid delta-isomerase   124672008
  • Deficiency of sterol carrier protein X   1296861002
  • Deficiency of succinate dehydrogenase   124165006
  • Deficiency of succinate-CoA ligase   445275003
  • Deficiency of succinyl-CoA hydrolase   124426000
  • Deficiency of sucrase-isomaltase   360843001  removed: 2004-07-31
  • Deficiency of sulfatase   360822002
  • Deficiency of sulfinoalanine decarboxylase   124601000
  • Deficiency of sulfite oxidase   124196002  removed: 2004-07-31
  • Deficiency of sulfite reductase   124198001
  • Deficiency of sulfotransferase   124402002
  • Deficiency of sulfuric ester hydrolase   361092000
  • Deficiency of sulfurtransferase   124400005
  • Deficiency of tannase   124422003
  • Deficiency of thiamine pyridinylase   124282002
  • Deficiency of thioether hydrolase   124559000
  • Deficiency of thiolester hydrolase   124543000
  • Deficiency of threonine aldolase   124606005
  • Deficiency of threonine dehydratase   124620003
  • Deficiency of threonine-tRNA ligase   124690009
  • Deficiency of thrombin   124496006
  • Deficiency of transacylase   124382004
  • Deficiency of transcarbamoylase   124380007
  • Deficiency of transcarboxylase   124378001
  • Deficiency of transferase   124237001
  • Deficiency of transformiminase   124376002
  • Deficiency of transformylase   124374004
  • Deficiency of transhydroxymethylase   124372000  removed: 2022-04-30
  • Deficiency of triacylglycerol lipase   124410001
  • Deficiency of trimetaphosphatase   124530000
  • Deficiency of triose-phosphate isomerase   124666008  removed: 2004-07-31
  • Deficiency of tripeptide aminopeptidase   124483005
  • Deficiency of triphosphoric monoester hydrolase   124549001
  • Deficiency of tropinesterase   124416007
  • Deficiency of true cholinesterase   360575008  removed: 2020-01-31
  • Deficiency of trypsin   361066007
  • Deficiency of tryptophan 2,3-dioxygenase   124208000
  • Deficiency of tryptophan 5-monooxygenase   124216009
  • Deficiency of tryptophan-tRNA ligase   124689000
  • Deficiency of tyraminase   361094004
  • Deficiency of tyrosine decarboxylase   124599002
  • Deficiency of tyrosine-tRNA ligase   124688008
  • Deficiency of UDPglucose 4-epimerase   124662005  removed: 2004-07-31
  • Deficiency of UDPglucose dehydrogenase   124110007
  • Deficiency of unspecific monooxygenase   124213001
  • Deficiency of uracil dehydrogenase   124153007
  • Deficiency of urate oxidase   124193005
  • Deficiency of urease   124510004
  • Deficiency of uronolactonase   124421005
  • Deficiency of valine-tRNA ligase   124695004
  • Deficiency of w-amidase   124508001
  • Deficiency of Xaa-Pro dipeptidase   360994007
  • Deficiency of xanthine oxidase   124147007
  • Deficiency of xylan endo-1,3-beta-xylosidase   124471008
  • Fumarate hydratase deficiency   237983002
  • Galactose epimerase deficiency   8849004
  • Glutamate-cysteine ligase deficiency   36799008
  • Homogentisate 1,2-dioxygenase deficiency   360378009
  • Interleukin-1 receptor-associated kinase 4 deficiency   699869003
  • Methylmalonate semialdehyde dehydrogenase deficiency   1293015005
  • Multiple carboxylase deficiency   1172966001
  • Myeloperoxidase deficiency syndrome   129644003
  • Phosphoenolpyruvate carboxykinase (GTP) deficiency   5335002
  • Porphobilinogen synthase deficiency   64081000
  • S-adenosylhomocysteine hydrolase deficiency   724040000
  • Trehalase deficiency   84193000
  • Triose phosphate isomerase deficiency   234405009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006

ancestors
sorted most to least specific
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:
  • CPT® to SNOMED Crosswalks

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