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Specific enzyme deficiency 129456006 SNOMED CT code SNOMED code 129456006 name Specific enzyme deficiency status active date introduced 2002-01-31 fully specified name(s) Specific enzyme deficiency (disorder) synonyms Specific enzyme deficiency parents Enzymopathy 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
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