E88.89
BillableOther specified metabolic disorders
Other specified metabolic disorders
Coding Notes
Inclusion Terms
Alternative clinical terms for this condition
- Launois-Bensaude adenolipomatosis
Excludes 1
Codes that cannot be used together with this code (mutual exclusion)
- •transitory endocrine and metabolic disorders specific to newbornP70-P74
- •androgen insensitivity syndromeE34.5
- •congenital adrenal hyperplasiaE25.0
- •hemolytic anemias attributable to enzyme disordersD55
- •Marfan syndromeQ87.4
- •5-alpha-reductase deficiencyE29.1
- •histiocytosis X (chronic)C96.6
- •adult pulmonary Langerhans cell histiocytosisJ84.82
Use Additional Code
Additional codes that should follow this code
- codes for associated conditions
Related Codes(2)
Also Known As / Clinical Terms(1915)
SNOMED CT
- Ketosis2538008
- Decreased oxygen affinity4565000
- Inherited disorder of folate metabolism4702003
- Pseudohypoaldosteronism, type 215689008
- Beat knee17059001
- Prepatellar bursitis17059001
- Ketotic hypoglycaemia20825002
- Ketotic hypoglycemia20825002
- Glutathione S-transferase deficiency21630007
- Methylcrotonic aciduria22684007
- Disorder of lysosomal enzyme23585005
- Lysosomal enzyme defect23585005
- Lysosomal enzyme disorder23585005
- Chronic diarrhea of infants AND/OR young children25319005
- Chronic diarrhoea of infants AND/OR young children25319005
- Non-amino organic acidaemia AND/OR aciduria26513001
- Non-amino organic acidemia AND/OR aciduria26513001
- Fumarylacetoacetase deficiency, acute type27373000
- Subacute tyrosinosis27373000
- Disorder of steroid metabolism28710006
- Decreased metabolic requirement33895002
- Decreased requirement33895002
- Infantile sialic acid storage disease34566007
- Sialic acid storage disease, severe infantile type34566007
- Sialuria, French type34566007
- Sialuria, infantile type34566007
- Hypercatabolism37910008
- Hypermetabolism37910008
- Hypermethioninaemia43123004
- Hypermethioninemia43123004
- Pseudohypoaldosteronism, type 143941006
- Patchy organ or tissue uptake47186006
- 17-KSR deficiency50658006
- 17-Ketosteroid reductase deficiency50658006
- 17B-HSD deficiency50658006
- Neutral 17-beta-hydroxysteroid oxidoreductase deficiency50658006
- Testosterone 17-beta-dehydrogenase deficiency50658006
- Rowley-Rosenberg syndrome53783003
- Arylsulfatase deficiency without MLD (metachromatic leukodystrophy)55731008
- Arylsulfatase deficiency without metachromatic leukodystrophy55731008
- Arylsulphatase deficiency without MLD (metachromatic leukodystrophy)55731008
- Arylsulphatase deficiency without metachromatic leucodystrophy55731008
- Congenital enterokinase deficiency56661000
- Congenital enteropathy due to enteropeptidase deficiency56661000
- Intestinal enterokinase deficiency56661000
- Intestinal enteropeptidase deficiency56661000
- Intestinal pseudo-trypsinogen deficiency56661000
- Pentose disorder57507002
- Increased metabolic requirement57669007
- Increased requirement57669007
- Proteinosis59714007
- Dilated cardiomyopathy due to familial storage disease60514000
- Diffuse organ or tissue uptake60942008
- Congenital defect of folate absorption62578003
- Congenital malabsorption of folic acid62578003
- Folate transport defect62578003
- Folic acid transport defect62578003
- Hereditary folate malabsorption62578003
- Ethanolamine kinase deficiency64235006
- Ethanolaminosis64235006
- Ethanolaminuria64235006
- Pancreatic colipase deficiency69478001
- Mucolipidosis70528007
- Folic acid deficiency (non anemic)75975003
- Pseudohypoadrenocorticalism77098009
- Pseudohypoaldosteronism77098009
- Increased auto-oxidation81741005
- Amino acid deficiency82994006
- Disorder of propionate AND/OR methylmalonate metabolism84618009
- Classic pseudohypoaldosteronism85880000
- Pseudohypoaldosteronism, type 1, dominant form85880000
- Increased oxygen affinity88401007
- Pseudohypoaldosteronism, Persian-Jewish type91180009
- Pseudohypoaldosteronism, type 1, recessive form91180009
- Dilated cardiomyopathy due to metabolic disorder111285003
- Dilated cardiomyopathy secondary to metabolic disorder111285003
- Metabolic cardiomyopathy111285003
- Metabolic disorder of transport111394006
- Hyperthermia-hyperphagia-hypothyroidism syndrome111569009
- Disorder of organic acid metabolism116021002
- Organic acid metabolism disorder116021002
- Disorder of iodine metabolism123970007
- Etiocholanolone fever123977005
- Deficiency of UDPglucose dehydrogenase124110007
- Deficiency of uridine diphosphate-glucose dehydrogenase124110007
- Deficiency of histidinol dehydrogenase124111006
- Deficiency of shikimate dehydrogenase124113009
- Deficiency of mevaldate reductase124120002
- Deficiency of HMG-CoA reductase124121003
- Deficiency of hydroxymethylglutaryl-CoA reductase (NADPH)124121003
- Deficiency of hydroxymethylglutaryl-coenzyme A reductase (reduced nicotinamide adenine dinucleotide phosphate)124121003
- Deficiency of malate dehydrogenase124124006
- Deficiency of malic dehydrogenase124124006
- Deficiency of malate dehydrogenase (oxaloacetate-decarboxylating)124125007
- Deficiency of pyruvic-malic carboxylase124125007
- Deficiency of malate dehydrogenase (decarboxylating)124126008
- Deficiency of 6-phosphogluconic dehydrogenase124128009
- Deficiency of phosphogluconate dehydrogenase124128009
- Deficiency of 6-phosphogluconic carboxylase124129001
- Deficiency of phosphogluconate dehydrogenase (decarboxylating)124129001
- Deficiency of phosphogluconic acid dehydrogenase124129001
- Deficiency of L-3-aldonate dehydrogenase124130006
- Deficiency of L-gulonate dehydrogenase124130006
- Deficiency of L-arabinose dehydrogenase124131005
- Deficiency of 3alpha-hydroxycholanate dehydrogenase124137009
- Deficiency of (R)-20-hydroxysteroid dehydrogenase124138004
- Deficiency of cortisone reductase124138004
- Deficiency of mannitol dehydrogenase124139007
- Deficiency of IMP dehydrogenase124140009
- Deficiency of inosine monophosphate dehydrogenase124140009
- Deficiency of malate oxidase124142001
- Deficiency of hexose oxidase124144000
- Deficiency of (S)-2-hydroxy-acid oxidase124146003
- Deficiency of glycolate oxidase124146003
- Deficiency of hydroxy-acid oxidase A124146003
- Deficiency of hydroxy-acid oxidase B124146003
- Deficiency of dehydrogluconate dehydrogenase124151009
- Deficiency of ketogluconate dehydrogenase124151009
- Deficiency of D-2-hydroxy-acid dehydrogenase124152002
- Deficiency of uracil dehydrogenase124153007
- Deficiency of formate dehydrogenase124154001
- Deficiency of aldehyde dehydrogenase (NAD^+^)124155000
- Deficiency of aldehyde dehydrogenase (nicotinamide adenine dinucleotide ^+^)124155000
- Deficiency of formaldehyde dehydrogenase124159006
- Deficiency of aldehyde oxidase124161002
- Deficiency of alpha-ketoglutaric dehydrogenase124162009
- Deficiency of oxoglutarate decarboxylase124162009
- Deficiency of oxoglutarate dehydrogenase (lipoamide)124162009
- Deficiency of galactonolactone dehydrogenase124164005
- Deficiency of fumarate reductase124165006
- Deficiency of fumaric hydrogenase124165006
- Deficiency of succinate dehydrogenase124165006
- Deficiency of succinic dehydrogenase124165006
- Deficiency of pyridoxamine-phosphate oxidase124174008
- Deficiency of amine oxidase (copper-containing)124175009
- Deficiency of amine oxidase (pyridoxal containing)124175009
- Deficiency of diamine oxidase124175009
- Deficiency of diamino oxhydrase124175009
- Deficiency of pyrroline-2-carboxylate reductase124176005
- Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^)124179003
- Deficiency of methylenetetrahydrofolate dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^)124179003
- Deficiency of nicotinate dehydrogenase124180000
- Deficiency of NAD(P)^+^ transhydrogenase124183003
- Deficiency of nicotinamide adenine dinucleotide phosphate ^+^ transhydrogenase124183003
- Deficiency of pyridine nucleotide transhydrogenase124183003
- Deficiency of transhydrogenase124183003
- Deficiency of glutathione reductase (NAD(P)H)124188007
- Deficiency of glutathione reductase (reduced nicotinamide adenine dinucleotide phosphate)124188007
- Deficiency of NADH dehydrogenase (ubiquinon)124189004
- Deficiency of complex I dehydrogenase124189004
- Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon)124189004
- Deficiency of type I dehydrogenase124189004
- Deficiency of ubiquinone reductase124189004
- Deficiency of monodehydroascorbate reductase (NADH)124190008
- Deficiency of monodehydroascorbate reductase (reduced nicotinamide adenine dinucleotide)124190008
- Deficiency of azobenzene reductase124191007
- Deficiency of NAD(P)H dehydrogenase (quinone)124192000
- Deficiency of menadione reductase124192000
- Deficiency of phylloquinone reductase124192000
- Deficiency of quinone reductase124192000
- Deficiency of reduced nicotinamide adenine dinucleotide phosphate dehydrogenase (quinone)124192000
- Deficiency of nitrate reductase124194004
- Deficiency of respiratory nitrate reductase124194004
- Deficiency of sulfite reductase124198001
- Deficiency of sulphite reductase124198001
- Deficiency of catechol oxidase124200007
- Deficiency of diphenol oxidase124200007
- Deficiency of o-diphenolase124200007
- Deficiency of phenolase (di)124200007
- Deficiency of polyphenol oxidase124200007
- Deficiency of peroxidase124203009
- Deficiency of protocatechuate 3,4-dioxygenase124205002
- Deficiency of protocatechuate oxygenase124205002
- Deficiency of myo-inositol oxygenase124211004
- Deficiency of aryl hydrocarbon hydroxylase124213001
- Deficiency of aryl-4-monooxygenase124213001
- Deficiency of microsomal P450 flavoprotein-linked monooxygenase124213001
- Deficiency of microsomal monooxygenase124213001
- Deficiency of unspecific monooxygenase124213001
- Deficiency of phenylalaninase124215008
- Deficiency of phenylalanine 4-hydroxylase124215008
- Deficiency of phenylalanine 4-monooxygenase124215008
- Deficiency of squalene epoxidase124219002
- Deficiency of squalene monooxygenase124219002
- 17 alpha-Hydroxylase deficiency124220008
- Adrenogenital disorder due to 17-alpha-hydroxylase deficiency124220008
- CAH - 17-alpha-hydroxysteroid dehydrogenase deficiency124220008
- CAH - 17-hydroxylase deficiency124220008
- Congenital adrenal hyperplasia, type 5124220008
- Deficiency of steroid 17-alpha-hydroxylase124220008
- Deficiency of steroid 17-alpha-monooxygenase124220008
- Steroid 17-alpha-monooxygenase deficiency124220008
- Deficiency of estradiol 6beta-hydroxylase124222000
- Deficiency of estradiol 6beta-monooxygenase124222000
- Deficiency of oestradiol 6beta-hydroxylase124222000
- Deficiency of oestradiol 6beta-monooxygenase124222000
- Deficiency of progesterone 11alpha-hydroxylase124223005
- Deficiency of progesterone 11alpha-monooxygenase124223005
- Deficiency of dehydrogenase124226002
- Deficiency of oxidase124228001
- Deficiency of oxygenase124230004
- Deficiency of hydroxylase124232007
- Deficiency of monooxygenase124232007
- Deficiency of dioxygenase124234008
- Deficiency of reductase124236005
- Deficiency of transferase124237001
- Deficiency of nicotinamide methyltransferase124238006
- Deficiency of phosphoribosylglycinamide formyltransferase124244005
- Deficiency of glycoaldehydetransferase124251001
- Deficiency of transketolase124251001
- TKT (transketolase) deficiency124251001
- Deficiency of dihydroxyacetonetransferase124252008
- Deficiency of glycerone-transferase124252008
- Deficiency of transaldolase124252008
- Deficiency of glucosamine acetylase124253003
- Deficiency of glucosamine acetyltransferase124253003
- Deficiency of glucosamine-phosphate acetyltransferase124254009
- Deficiency of phosphoglucosamine acetylase124254009
- Deficiency of phosphoglucosamine transacetylase124254009
- Deficiency of arylamine acetylase124255005
- Deficiency of arylamine acetyltransferase124255005
- Deficiency of choline acetylase124256006
- Deficiency of choline acetyltransferase124256006
- 3-Ketothiolase deficiency124258007
- 3-Methylhydroxybutyric acidaemia124258007
- 3-Methylhydroxybutyric acidemia124258007
- Acetoacetyl-CoA thiolase deficiency124258007
- Deficiency of acetoacetyl-CoA thiolase124258007
- Deficiency of acetyl-CoA acetyltransferase124258007
- Deficiency of acetyl-coenzyme A acetyltransferase124258007
- alpha-Methylacetoacetic aciduria124258007
- Deficiency of hydrogen-sulfide acetyltransferase124259004
- Deficiency of hydrogen-sulphide acetyltransferase124259004
- Deficiency of thioethanolamine acetyltransferase124260009
- Deficiency of thioltransacetylase B124260009
- Deficiency of glycerol-3-phosphate acyltransferase124264000
- Deficiency of 1,4-alpha-glucan branching enzyme124267007
- Deficiency of amylo-(1,4,6)-transglycosylase124267007
- Deficiency of branching enzyme124267007
- Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase124268002
- Deficiency of oligoglucanbranching glycosyltransferase124268002
- Deficiency of 1,3-beta-D-glucan-UDP glucosyltransferase124269005
- Deficiency of 1,3-beta-glucan synthase124269005
- Deficiency of UDPglucose-1,3-beta-D-glucan glucosyltransferase124269005
- Deficiency of callose synthetase124269005
- Deficiency of alpha-1,4-glucan-protein synthase (UDP-forming)124270006
- Deficiency of alpha-1,4-glucan-protein synthase (uridine diphosphate-forming)124270006
- Deficiency of UMP pyrophosphorylase124276000
- Deficiency of uracil phosphoribosyltransferase124276000
- Deficiency of orotate phosphoribosyltransferase124277009
- Deficiency of orotidylic acid phosphorylase124277009
- Deficiency of nicotinate phosphoribosyltransferase124278004
- Deficiency of NMN pyrophosphorylase124279007
- Deficiency of nicotinamide phosphoribosyltransferase124279007
- Deficiency of amidophosphoribosyltransferase124280005
- Deficiency of glutamine phosphoribosylpyrophosphate amidotransferase124280005
- Deficiency of phosphoribosyldiphosphate 5-amidotransferase124280005
- Deficiency of dimethylallyltransferase124281009
- Deficiency of dimethylallyltranstransferase124281009
- Deficiency of geranyl-diphosphate synthase124281009
- Deficiency of prenyltransferase124281009
- Deficiency of pyrimidine transferase124282002
- Deficiency of thiamin pyridinylase124282002
- Deficiency of thiaminase I124282002
- Deficiency of thiamine pyridinylase124282002
- Deficiency of tyrosine aminotransferase124287008
- Deficiency of 2,5-diaminovalerate aminotransferase124290002
- Deficiency of diamino-acid aminotransferase124290002
- Deficiency of oximinotransferase124296008
- Deficiency of transoximinase124296008
- Deficiency of glucosamine kinase124304000
- Deficiency of dehydrogluconokinase124308002
- Deficiency of ketogluconokinase124308002
- Deficiency of heptulokinase124309005
- Deficiency of sedoheptulokinase124309005
- Deficiency of ribokinase124310000
- Deficiency of ribulokinase124311001
- Deficiency of phosphoribokinase124313003
- Deficiency of adenosine kinase124314009
- Deficiency of ribosylnicotinamide kinase124315005
- Deficiency of DPN kinase124316006
- Deficiency of NAD^+^ kinase124316006
- Deficiency of nicotinamide adenine dinucleotide ^+^ kinase124316006
- Deficiency of dephospho-CoA kinase124317002
- Deficiency of dephospho-coenzyme A kinase124317002
- Deficiency of adenylylsulfate kinase124318007
- Deficiency of adenylylsulphate kinase124318007
- Deficiency of flavokinase124319004
- Deficiency of riboflavin kinase124319004
- Deficiency of erythritol kinase124320005
- Deficiency of glycerate kinase124323007
- Deficiency of choline kinase124324001
- Deficiency of pantetheine kinase124325000
- Deficiency of pyridoxal kinase124326004
- Deficiency of mevalonate kinase124327008
- Mevalonate kinase deficiency124327008
- Deficiency of dephosphophosphorylase kinase124329006
- Deficiency of phosphorylase kinase124329006
- Deficiency of phosphoenol transphosphorylase124331002
- Deficiency of phosphoenolpyruvate kinase124331002
- Deficiency of pyruvate kinase124331002
- PK - Pyruvate kinase deficiency124331002
- Pyruvate kinase deficiency124331002
- Deficiency of acetate kinase124333004
- Deficiency of acetokinase124333004
- Deficiency of carbamate kinase124334005
- Deficiency of creatine kinase124338008
- Deficiency of creatine phosphokinase124338008
- Deficiency of phosphomevalonate kinase124339000
- Adenylate kinase deficiency124340003
- Deficiency of adenylate kinase124340003
- Deficiency of myokinase124340003
- Deficiency of nucleoside-phosphate kinase124341004
- Deficiency of nucleoside-diphosphate kinase124342006
- Deficiency of ribose-phosphate pyrophosphokinase124343001
- Phosphoribosylpyrophosphate synthetase deficiency124343001
- Deficiency of thiamin pyrophosphokinase124344007
- Deficiency of thiamine pyrophosphokinase124344007
- Deficiency of NAD^+^ pyrophosphorylase124345008
- Deficiency of nicotinamide-nucleotide adenylyltransferase124345008
- Deficiency of FAD pyrophosphorylase124346009
- Deficiency of FMN adenylyltransferase124346009
- Deficiency of riboflavin mononucleotide adenylyltransferase124346009
- Deficiency of dephospho-CoA pyrophosphorylase124347000
- Deficiency of pantetheine-phosphate adenylyltransferase124347000
- Deficiency of ADP-sulfurylase124348005
- Deficiency of ADP-sulphurylase124348005
- Deficiency of sulfate adenylyltransferase (ADP)124348005
- Deficiency of sulfate adenylyltransferase (adenosine diphosphate)124348005
- Deficiency of sulphate adenylyltransferase (ADP)124348005
- Deficiency of DNA-directed RNA polymerase124349002
- Deficiency of RNA nucleotidyltransferase (DNA-directed)124349002
- Deficiency of deoxyribonucleic acid-directed ribonucleic acid polymerase124349002
- Deficiency of DNA nucleotidyltransferase (DNA-directed)124350002
- Deficiency of DNA-directed DNA polymerase124350002
- Deficiency of deoxyribonucleic acid-directed deoxyribonucleic acid polymerase124350002
- Deficiency of polynucleotide phosphorylase124351003
- Deficiency of polyribonucleotide nucleotidyltransferase124351003
- Deficiency of UDPglucose pyrophosphorylase124352005
- Deficiency of UTP-glucose-1-phosphate uridylyltransferase124352005
- Deficiency of glucose-1-phosphate uridylyltransferase124352005
- Deficiency of uridine triphosphate-glucose-1-phosphate uridylyltransferase124352005
- Deficiency of ethanolamine-phosphate cytidylyltransferase124355007
- Deficiency of phosphorylethanolamine transferase124355007
- Deficiency of choline-phosphate cytidylyltransferase124356008
- Deficiency of phosphorylcholine transferase124356008
- Deficiency of DNA nucleotidylexotransferase124357004
- Deficiency of deoxyribonucleic acid nucleotidylexotransferase124357004
- Deficiency of terminal addition enzyme124357004
- Deficiency of terminal deoxyribonucleotidyltransferase124357004
- Deficiency of ethanolaminephosphotransferase124358009
- Deficiency of cholinephosphotransferase124359001
- Deficiency of phosphorylcholine-glyceride transferase124359001
- Deficiency of thiosulfate cyanide transsulfurase124360006
- Deficiency of thiosulfate sulfurtransferase124360006
- Deficiency of thiosulfate thiotransferase124360006
- Deficiency of thiosulphate cyanide transsulphurase124360006
- Deficiency of thiosulphate sulphurtransferase124360006
- Deficiency of thiosulphate thiotransferase124360006
- Deficiency of 3-mercaptopyruvate sulfurtransferase124361005
- Deficiency of 3-mercaptopyruvate sulphurtransferase124361005
- Deficiency of aryl sulfotransferase124362003
- Deficiency of aryl sulphotransferase124362003
- Deficiency of phenol sulfotransferase124362003
- Deficiency of phenol sulphotransferase124362003
- Deficiency of sulfokinase124362003
- Deficiency of sulphokinase124362003
- Deficiency of alcohol sulfotransferase124363008
- Deficiency of alcohol sulphotransferase124363008
- Deficiency of hydroxysteroid sulfotransferase124363008
- Deficiency of hydroxysteroid sulphotransferase124363008
- Deficiency of oxalate CoA-transferase124364002
- Deficiency of oxalate coenzyme A-transferase124364002
- Deficiency of succinyl-beta-ketoacyl-CoA transferase124364002
- Deficiency of 3-oxoacid CoA-transferase124366000
- Deficiency of 3-oxoacid coenzyme A-transferase124366000
- Deficiency of 3-oxoadipate CoA-transferase124367009
- Deficiency of 3-oxoadipate coenzyme A-transferase124367009
- Deficiency of butyrate-acetoacetate CoA-transferase124368004
- Deficiency of butyrate-acetoacetate coenzyme A-transferase124368004
- Deficiency of methyltransferase124370008
- Deficiency of transmethylase124370008
- Deficiency of transformylase124374004
- Deficiency of transformiminase124376002
- Deficiency of carboxyltransferase124378001
- Deficiency of transcarboxylase124378001
- Deficiency of carbamoyltransferase124380007
- Deficiency of transcarbamoylase124380007
- Deficiency of acyltransferase124382004
- Deficiency of transacylase124382004
- Deficiency of hexosyltransferase124388000
- Deficiency of pentosyltransferase124390004
- Deficiency of amidinotransferase124392007
- Deficiency of transamidinase124392007
- Deficiency of phosphokinase124396005
- Deficiency of phosphotransferase124396005
- Deficiency of diphosphotransferase124398006
- Deficiency of pyrophosphokinase124398006
- Deficiency of pyrophosphotransferase124398006
- Deficiency of sulfurtransferase124400005
- Deficiency of sulphurtransferase124400005
- Deficiency of sulfotransferase124402002
- Deficiency of sulphotransferase124402002
- Deficiency of nucleotidyltransferase124406004
- Deficiency of hydrolase124407008
- Deficiency of B-esterase124408003
- Deficiency of ali-esterase124408003
- Deficiency of carboxylesterase124408003
- Deficiency of cocaine esterase124408003
- Deficiency of methylbutyrase124408003
- Deficiency of monobutyrase124408003
- Deficiency of A-esterase124409006
- Deficiency of arylesterase124409006
- Deficiency of paraoxonase124409006
- Deficiency of lipase124410001
- Deficiency of triacylglycerol lipase124410001
- Deficiency of tributyrase124410001
- Deficiency of triglyceride lipase124410001
- Deficiency of lecithinase A124411002
- Deficiency of phosphatidase124411002
- Deficiency of phosphatidolipase124411002
- Deficiency of phospholipase A>2<124411002
- Deficiency of lysolecithinase124412009
- Deficiency of lysophospholipase124412009
- Deficiency of phospholipase B124412009
- Deficiency of tropinesterase124416007
- Deficiency of chlorophyllase124419000
- Deficiency of uronolactonase124421005
- Deficiency of tannase124422003
- Deficiency of succinyl-CoA acylase124426000
- Deficiency of succinyl-CoA hydrolase124426000
- Deficiency of succinyl-coenzyme A hydrolase124426000
- Deficiency of hydroxymethylglutaryl-CoA hydrolase124428004
- Deficiency of hydroxyacylglutathione hydrolase124429007
- Deficiency of phosphatidate phosphatase124433000
- Deficiency of phosphoadenylate 3'-nucleotidase124436008
- Deficiency of phosphoprotein phosphatase124441000
- Deficiency of protein phosphatase124441000
- Deficiency of phosphorylase phosphatase124442007
- Deficiency of nucleotidase124443002
- Deficiency of clostridium edematens beta- and gamma-toxins124445009
- Deficiency of clostridium oedematens beta- and gamma-toxins124445009
- Deficiency of clostridium welchii alpha-toxin124445009
- Deficiency of lecithinase C124445009
- Deficiency of phospholipase C124445009
- Deficiency of DNase124450003
- Deficiency of deoxyribonuclease I124450003
- Deficiency of pancreatic Dnase124450003
- Deficiency of thymonuclease124450003
- Deficiency of DNase II124451004
- Deficiency of deoxyribonuclease II124451004
- Deficiency of pancreatic DNase II124451004
- Deficiency of cellulase124455008
- Deficiency of endo-1,4-beta-glucanase124455008
- Deficiency of dextranase124458005
- Deficiency of pectin depolymerase124459002
- Deficiency of pectinase124459002
- Deficiency of polygalacturonase124459002
- Deficiency of lysozyme124460007
- Deficiency of muramidase124460007
- Deficiency of neuraminidase124461006
- Deficiency of sialidase124461006
- Deficiency of N-acetyl-beta-glucosaminidase124469008
- Deficiency of endo-1,3-beta-xylanase124471008
- Deficiency of xylan endo-1,3-beta-xylosidase124471008
- Deficiency of xylanase124471008
- Deficiency of hyaluronidase124473006
- Deficiency of hyaluronoglucosaminidase124473006
- Deficiency of lichenase124475004
- Deficiency of NAD(P)^+^ nucleosidase124480008
- Deficiency of nicotinamide adenine dinucleotide phosphate ^+^ nucleosidase124480008
- Deficiency of tripeptide aminopeptidase124483005
- Deficiency of dipeptidase124489009
- Deficiency of fibrinogenase124496006
- Deficiency of thrombin124496006
- Deficiency of fibrinase124497002
- Deficiency of fibrinolysin124497002
- Deficiency of plasmin124497002
- Deficiency of enterokinase124498007
- Deficiency of enteropeptidase124498007
- Deficiency of pancreaopeptidase E124499004
- Deficiency of pancreatic elastase124499004
- Deficiency of pancreatic elastase I124499004
- Deficiency of pepsin124501007
- Deficiency of pepsin A124501007
- Deficiency of pepsin B124502000
- Deficiency of chymosin124503005
- Deficiency of rennin124503005
- Deficiency of angiotensin-forming enzyme124504004
- Deficiency of angiotensinogenase124504004
- Deficiency of renin124504004
- Deficiency of glycyl-glycine endopeptidase124505003
- Deficiency of lysostaphin124505003
- Deficiency of peptidoglycan endopeptidase124505003
- Deficiency of w-amidase124508001
- Deficiency of acylamidase124509009
- Deficiency of acylase124509009
- Deficiency of amidase124509009
- Deficiency of formyltetrahydrofolate deformylase124512007
- Deficiency of formamidase124514008
- Deficiency of carbamoylaspartic dehydrase124516005
- Deficiency of dihydroorotase124516005
- Deficiency of guanase124522001
- Deficiency of guanine aminase124522001
- Deficiency of guanine deaminase124522001
- Deficiency of ADP deaminase124526003
- Deficiency of adenosine diphosphate deaminase124526003
- Deficiency of methenyltetrahydrofolate cyclohydrolase124527007
- Deficiency of IMP cyclohydrolase124528002
- Deficiency of inosine monophosphate cyclohydrolase124528002
- Deficiency of inorganic pyrophosphatase124529005
- Deficiency of ATP monophosphatase124531001
- Deficiency of ATPase124531001
- Deficiency of adenosinetriphosphatase124531001
- Deficiency of adenylpyrophosphatase124531001
- Deficiency of nucleoside-diphosphatase124532008
- Deficiency of ATP pyrophosphatase124534009
- Deficiency of adenosine triphosphate pyrophosphatase124534009
- Deficiency of nucleotide pyrophosphatase124535005
- Deficiency of beta-diketonase124536006
- Deficiency of fumarylacetoacetase124536006
- Deficiency of DFPase124538007
- Deficiency of di-isopropyl phosphorofluoridase124538007
- Deficiency of diisopropyl-fluorophosphatase124538007
- Deficiency of diisopropylfluorophosphonate halogenase124538007
- Deficiency of phosphoamidase124539004
- Deficiency of carboxylic ester hydrolase124541003
- Deficiency of thiolester hydrolase124543000
- Deficiency of phosphodiester hydrolase124547004
- Deficiency of phosphoric diester hydrolase124547004
- Deficiency of triphosphoric monoester hydrolase124549001
- Deficiency of diphosphoric monoester hydrolase124553004
- Deficiency of nucleosidase124557003
- Deficiency of thioether hydrolase124559000
- Deficiency of ether hydrolase124561009
- Deficiency of peptidase124563007
- Deficiency of peptide hydrolase124563007
- Deficiency of alpha-aminoacylpeptide hydrolase124565000
- Deficiency of dipeptide hydrolase124567008
- Deficiency of dipeptidylpeptide hydrolase124569006
- Deficiency of ribonuclease124573009
- Deficiency of exoribonuclease124575002
- Deficiency of endoribonuclease124577005
- Deficiency of metallocarboxypeptidase124579008
- Deficiency of omega peptidase124583008
- Deficiency of serine proteinase124585001
- Deficiency of aspartic proteinase124589007
- Deficiency of metalloproteinase124591004
- Deficiency of lyase124592006
- Deficiency of cysteine-sulfinate decarboxylase124601000
- Deficiency of cysteine-sulphinate decarboxylase124601000
- Deficiency of sulfinoalanine decarboxylase124601000
- Deficiency of sulphinoalanine decarboxylase124601000
- Deficiency of pantothenoylcysteine decarboxylase124602007
- Deficiency of diphosphomevalonate decarboxylase124604008
- Deficiency of erythrulose-1-phosphate synthetase124605009
- Deficiency of ketotetrose-phosphate aldolase124605009
- Deficiency of phosphoketotetrose aldolase124605009
- Deficiency of phosphoketolase124607001
- Deficiency of isocitrase124609003
- Deficiency of isocitratase124609003
- Deficiency of isocitrate lyase124609003
- Deficiency of isocitritase124609003
- Deficiency of N-acetylneuraminate lyase124610008
- Deficiency of N-acetylneuraminic acid aldolase124610008
- Deficiency of hydroxymethylglutaryl-CoA synthase124612000
- Deficiency of hydroxymethylglutaryl-coenzyme A synthase124612000
- Deficiency of citrate condensing enzyme124613005
- Deficiency of citrate(si)-synthase124613005
- Deficiency of citrogenase124613005
- Deficiency of condensing enzyme124613005
- Deficiency of oxaloacetate transacetase124613005
- Deficiency of synthetase124613005
- Deficiency of aconitase124617006
- Deficiency of aconitate hydratase124617006
- Deficiency of 2-phosphoglycerate dehydratase124618001
- Deficiency of enolase124618001
- Deficiency of phosphopyruvate hydratase124618001
- Deficiency of methylglutaconyl-CoA hydratase124622006
- Deficiency of methylglutaconyl-coenzyme A hydratase124622006
- Deficiency of hyaluronate lyase124625008
- Deficiency of heparin eliminase124626009
- Deficiency of heparin lyase124626009
- Deficiency of heparinase124626009
- Deficiency of formiminotetrahydrofolate cyclodeaminase124629002
- Deficiency of aldoketomutase124634003
- Deficiency of ketone-aldehyde mutase124634003
- Deficiency of lactoylglutathione lyase124634003
- Deficiency of methylglyoxalase124634003
- Deficiency of carbon-carbon lyase124636001
- Deficiency of aldehyde-lyase124640005
- Deficiency of oxo-acid-lyase124642002
- Deficiency of carbon-oxygen lyase124644001
- Deficiency of dehydratase124646004
- Deficiency of hydrolyase124646004
- Deficiency of carbon-nitrogen lyase124648003
- Deficiency of carbon-sulfur lyase124652003
- Deficiency of carbon-sulphur lyase124652003
- Deficiency of carbon-halide lyase124654002
- Deficiency of phosphorus-oxygen lyase124656000
- Deficiency of isomerase124657009
- Deficiency of phosphoribulose epimerase124661003
- Deficiency of ribulose-phosphate 3-epimerase124661003
- Deficiency of retinal isomerase124665007
- Deficiency of retinene isomerase124665007
- Deficiency of phosphopentosisomerase124667004
- Deficiency of phosphoriboisomerase124667004
- Deficiency of ribose-5-phosphate isomerase124667004
- Deficiency of mannose-6-phosphate isomerase124668009
- Deficiency of phosphohexoisomerase124668009
- Deficiency of phosphohexomutase124668009
- Deficiency of phosphomannose isomerase124668009
- Deficiency of phenylpyruvate tautomerase124671001
- Deficiency of steroid delta-isomerase124672008
- Deficiency of isopentenyl-diphosphate delta-isomerase124673003
- Deficiency of lysolecithin acylmutase124674009
- Deficiency of lysolecithin migratase124674009
- Deficiency of phosphoglycerate mutase124675005
- Deficiency of phosphoglycerate phosphomutase124675005
- Deficiency of phosphoglyceromutase124675005
- Deficiency of glucose phosphomutase124676006
- Deficiency of phosphoglucomutase124676006
- Deficiency of acetylglucosamine phosphomutase124677002
- Deficiency of phosphoacetylglucosamine mutase124677002
- Deficiency of glutamate mutase124679004
- Deficiency of methylaspartate mutase124679004
- Deficiency of methylmalonyl-CoA mutase124680001
- Deficiency of methylmalonyl-coenzyme A mutase124680001
- Vitamin B12-unresponsive methylmalonic aciduria124680001
- Deficiency of epimerase124682009
- Deficiency of racemase124684005
- Deficiency of mutase124686007
- Deficiency of ligase124687003
- Deficiency of lysine-tRNA ligase124693006
- Deficiency of lysine-transfer ribonucleic acid ligase124693006
- Deficiency of lysyl-tRNA synthetase124693006
- Deficiency of succinate- coenzyme A ligase (guanosine diphosphate-forming)124700006
- Deficiency of succinate-CoA ligase (GDP-forming)124700006
- Deficiency of succinyl-CoA synthetase (GDP-forming)124700006
- Deficiency of succinate-CoA ligase (ADP-forming)124701005
- Deficiency of succinate-coenzyme A ligase (adenosine diphosphate-forming)124701005
- Deficiency of succinyl-CoA synthetase (ADP-forming)124701005
- Deficiency of phosphopantothenate-cysteine ligase124707009
- Deficiency of phosphopantothenoylcysteine synthetase124707009
- Deficiency of formate-tetrahydrofolate ligase124710002
- Deficiency of formyltetrahydrofolate synthetase124710002
- Deficiency of glycinamide ribonucleotide synthetase124712005
- Deficiency of phosphoribosylamine-glycine ligase124712005
- Deficiency of phosphoribosylglycinamide synthetase124712005
- Deficiency of NAD^+^ synthase (glutamine-hydrolysing)124713000
- Deficiency of NAD^+^ synthetase(glutamine-hydrolysing)124713000
- Deficiency of nicotinamide adenine dinucleotide ^+^ synthase (glutamine-hydrolysing)124713000
- Deficiency of acid-ammonia ligase124721006
- Deficiency of amide synthase124721006
- Deficiency of amine ligase124721006
- Specific enzyme deficiency129456006
- Deficiency of folic acid190633005
- Folate deficiency190633005
- Folic acid deficiency190633005
- Trypsinogen deficiency190953007
- Meconium ileus206523001
- Meconium obstruction206523001
- Ketonaemia213281004
- Ketonemia213281004
- Erythrocyte enzyme deficiency234401000
- PGK - Phosphoglycerokinase deficiency234403002
- Phosphoglycerokinase deficiency234403002
- GPI - Glucose phosphate isomerase deficiency234404008
- Glucose phosphate isomerase deficiency234404008
- Adenosine deaminase overproduction234408006
- Disorder of cortisol-cortisone shuttle237769009
- Corticosteroid 11-reductase deficiency237771009
- Disorder of beta and omega amino acid metabolism237940008
- Complete deficiency of methylmalonyl-CoA mutase237945003
- Complete deficiency of methylmalonyl-coenzyme A mutase237945003
- MMUT-gene related complete deficiency of methylmalonyl-coenzyme A mutase237945003
- Mutase0 methylmalonic acidaemia237945003
- Mutase0 methylmalonic acidemia237945003
- Vitamin B12-unresponsive methylmalonic acidaemia type mut0237945003
- Vitamin B12-unresponsive methylmalonic acidemia type mut0237945003
- Vitamin B12-unresponsive methylmalonic aciduria type mut0237945003
- MMUT-gene related partial deficiency of methylmalonyl-coenzyme A mutase237946002
- Mutase- methylmalonic acidaemia237946002
- Mutase- methylmalonic acidemia237946002
- Partial deficiency of methylmalonyl-CoA mutase237946002
- Partial deficiency of methylmalonyl-coenzyme A mutase237946002
- Vitamin B12-unresponsive methylmalonic acidaemia type mut-237946002
- Vitamin B12-unresponsive methylmalonic acidemia type mut-237946002
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - non-potassium stimulated237954000
- Mitochondrial 2-methylacetoacetyl-coenzyme A thiolase deficiency - non-potassium stimulated237954000
- Cytosolic acetoacetyl-CoA thiolase deficiency237955004
- Cytosolic acetoacetyl-coenzyme A thiolase deficiency237955004
- Fumarase deficiency237983002
- Fumarate hydratase deficiency237983002
- Disorder of sialic acid metabolism238050009
- Sialuria238051008
- Disorder of blood gas238157005
- Disorder of oxygen transport238160003
- Impaired oxygen delivery238161004
- Impaired oxygen extraction238162006
- Tissue shunting238162006
- Increased oxygen demand238163001
- Hoffa disease267439008
- Liposynovitis prepatellaris267439008
- Deficiency of limit dextrinase272938000
- Perinatal intestinal obstruction276521007
- Sialic storage disease278991002
- Muscle D-lactate dehydrogenase deficiency287266002
- Deficiency of protease302736004
- Pancreatic malabsorption302920007
- Deficiency of endopeptidase303096003
- Deficiency of acetylcholinesterase360586005
- Deficiency of choline esterase I360586005
- Deficiency of true cholinesterase360586005
- Deficiency of benzoylcholinesterase360619001
- Deficiency of butyrylcholine esterase360619001
- Deficiency of butyrylcholinesterase360619001
- Deficiency of pectin demethoxylase360653002
- Deficiency of pectin methoxylase360653002
- Deficiency of pectin methylesterase360653002
- Deficiency of pectinesterase360653002
- Deficiency of lactonase360675000
- Deficiency of phosphomonoesterase360763000
- Deficiency of glycerophosphatase360771001
- Deficiency of alkaline phosphomonoesterase360781002
- Deficiency of alkaline phosphatase360792001
- Deficiency of lecithinase D360812008
- Deficiency of lipophosphodiesterase II360812008
- Deficiency of phospholipase D360812008
- Deficiency of NAD^+^ nucleosidase360887005
- Deficiency of nicotinamide adenine dinucleotide ^+^ nucleosidase360887005
- Deficiency of DPN hydrolase360892007
- Deficiency of DPNase360892007
- Deficiency of NADase360892007
- Deficiency of nicotinamide adenine dinucleotidase360892007
- Deficiency of cytosol aminopeptidase360902000
- Deficiency of leucine aminopeptidase360902000
- Deficiency of peptidase a360921008
- Deficiency of L-prolylglycine dipeptidase360959000
- Deficiency of cytosol non-specific dipeptidase360959000
- Deficiency of prolinase360959000
- Deficiency of prolyl dipeptidase360959000
- Deficiency of Xaa-Pro dipeptidase360994007
- Deficiency of imidodipeptidase360994007
- Deficiency of prolidase360994007
- Deficiency of proline dipeptidase360994007
- Deficiency of cathepsin C361017005
- Deficiency of dipeptidyl peptidase I361017005
- Deficiency of dipeptidyl transferase361017005
- Deficiency of dipeptidyl-amino-peptidase I361017005
- Deficiency of chymotrypsin A and B361043006
- Deficiency of chymotrypsin361051009
- Deficiency of alpha- and beta-trypsin361058003
- Deficiency of trypsin361066007
- Deficiency of ribosomal neutral proteinase361075009
- Deficiency of cathepsin R361082008
- Deficiency of ribosomal cathepsin361082008
- Deficiency of alkylhalidase361089004
- Deficiency of halogenase361089004
- Deficiency of phosphatase361090008
- Deficiency of phosphoric monoester hydrolase361091007
- Deficiency of sulfuric ester hydrolase361092000
- Deficiency of sulphuric ester hydrolase361092000
- Deficiency of adrenaline oxidase361093005
- Deficiency of amine oxidase361093005
- Deficiency of amine oxidase (flavin-containing)361093005
- Deficiency of epinephrine oxidase361093005
- Deficiency of monoamine oxidase361094004
- Deficiency of tyraminase361094004
- Disorder of protein metabolism363090004
- Deficiency of acetylesterase371316005
- Deficiency of protein kinase387814004
- Deficiency of glycogen synthase a kinase387815003
- Deficiency of hydroxyalkyl-protein kinase387816002
- Deficiency of UTP-hexose-1-phosphate uridylyltransferase398664009
- Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase398664009
- UTP-hexose-1-phosphate uridyltransferase deficiency398664009
- Clinical manifestation of enzyme deficiency410053003
- Hyperimidodipeptiduria410055005
- Hyperimidodipeptiduria due to proline dipeptidase deficiency410055005
- Iminodipeptiduria410055005
- Carnitine deficiency421784001
- Disorder due to N-acetyltransferase enzyme variant423148005
- Fast acetylator423350005
- Fast acetylator due to N-acetyltransferase enzyme variant423350005
- Cytochrome p450 CYP1A2 enzyme deficiency423580001
- Cytochrome p450 enzyme deficiency424224001
- Cytochrome p450 CYP3A enzyme deficiency424846003
- Cytochrome p450 CYP2E1 enzyme deficiency424925008
- Slow acetylator425079005
- Slow acetylator due to N-acetyltransferase enzyme variant425079005
- Deficiency of isobutyryl-CoA dehydrogenase445274004
- Deficiency of isobutyryl-coenzyme A dehydrogenase445274004
- Deficiency of succinate-CoA ligase445275003
- Deficiency of succinate-coenzyme A ligase445275003
- Deficiency of succinyl-CoA synthetase445275003
- Gordon hyperkalaemia-hypertension syndrome703254001
- Gordon hyperkalemia-hypertension syndrome703254001
- Pseudohypoaldosteronism type 2A703254001
- Angio-oedema due to disorder of kinin metabolism703795004
- Angioedema due to disorder of kinin metabolism703795004
- Aromatase excess syndrome709075008
- Increased aromatase activity709075008
- Cerebral folate deficiency711403001
- Cerebral folate transport deficiency711403001
- Neurodegeneration due to cerebral folate transport deficiency711403001
- Chronic diarrhea due to glucoamylase deficiency716277000
- Chronic diarrhoea due to glucoamylase deficiency716277000
- Maltase glucoamylase deficiency716277000
- Deficiency of Zeta-chain associated protein kinase 70716716001
- ZAP70 (Zeta-chain associated protein kinase 70) deficiency716716001
- ZAP70 deficiency716716001
- Deficiency of leukotriene C4 synthase717185008
- Hypotonia with failure to thrive and microcephaly syndrome717185008
- Leukotriene C4 synthase deficiency717185008
- Transient pseudohypoaldosteronism717263009
- Folinic acid responsive developmental and epileptic encephalopathy717276003
- Folinic acid responsive seizures717276003
- Brunner syndrome718210003
- Deficiency of monoamine oxidase A718210003
- Monoamine oxidase A deficiency718210003
- Complete mevalonate kinase deficiency718558008
- Mevalonic aciduria718558008
- Cathepsin D deficiency720831008
- Deficiency of cathepsin D720831008
- Lyngstadaas syndrome723583009
- Steroid dehydrogenase deficiency and dental anomaly syndrome723583009
- Hypermethioninaemia due to S-adenosylhomocysteine hydrolase deficiency724039002
- Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency724039002
- Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency724039002
- Deficiency of S-adenosylhomocysteine hydrolase724040000
- S-adenosylhomocysteine hydrolase deficiency724040000
- Coenzyme Q10 deficiency724575009
- ARCA2 - autosomal recessive cerebellar ataxia type 2725394006
- Autosomal recessive ataxia due to coenzyme Q10 deficiency725394006
- Autosomal recessive ataxia due to ubiquinone deficiency725394006
- Autosomal recessive spinocerebellar ataxia type 9725394006
- Intestinal obstruction of newborn733145007
- Neonatal obstruction of intestine733145007
- Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency733447005
- Meconium ileus due to guanylate cyclase 2C deficiency733447005
- Deficiency of guanylate cyclase 2C733448000
- Guanylate cyclase 2C deficiency733448000
- Deficiency of alpha-ketoglutarate dehydrogenase733630004
- Oxoglutaricaciduria733630004
- Antiquitin deficiency734434007
- PD-DEE - pyridoxine-dependent developmental and epileptic encephalopathy734434007
- Pyridoxine-dependent DEE (developmental and epileptic encephalopathy)734434007
- Pyridoxine-dependent developmental and epileptic encephalopathy734434007
- Pyridoxine-dependent epilepsy734434007
- Vitamin B6-dependent seizures734434007
- Deficiency of sarcoplasmic reticulum calcium adenosine triphosphatase 1735423001
- Deficiency of sarcoplasmic reticulum calcium adenosinetriphosphatase 1735423001
- Deficiency of sarcoplasmic reticulum calcium-ATPase 1735423001
- CYP2D6 poor metaboliser738532000
- CYP2D6 poor metabolizer738532000
- Cytochrome P450 family 2 subfamily D member 6 poor metaboliser738532000
- Cytochrome P450 family 2 subfamily D member 6 poor metabolizer738532000
- CYP2D6 ultra-rapid metaboliser738535003
- CYP2D6 ultra-rapid metabolizer738535003
- Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metaboliser738535003
- Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metabolizer738535003
- UGT1A1 poor metaboliser738536002
- UGT1A1 poor metabolizer738536002
- Uridine diphosphate glucuronosyltransferase family 1 member A1 poor metaboliser738536002
- Uridine diphosphate glucuronosyltransferase family 1 member A1 poor metabolizer738536002
- TPMT poor metaboliser738539009
- TPMT poor metabolizer738539009
- Thiopurine S-methyltransferase poor metaboliser738539009
- Thiopurine S-methyltransferase poor metabolizer738539009
- DPYD poor metaboliser738542003
- DPYD poor metabolizer738542003
- Dihydropyrimidine dehydrogenase poor metaboliser738542003
- Dihydropyrimidine dehydrogenase poor metabolizer738542003
- CYP2C9 poor metaboliser738545001
- CYP2C9 poor metabolizer738545001
- Cytochrome P450 family 2 subfamily C member 9 poor metaboliser738545001
- Cytochrome P450 family 2 subfamily C member 9 poor metabolizer738545001
- SLCO1B1 (solute carrier organic anion transporter family member 1B1) poor metaboliser738760000
- SLCO1B1 (solute carrier organic anion transporter family member 1B1) poor metabolizer738760000
- SLCO1B1 poor function738760000
- SLCO1B1 poor metaboliser738760000
- SLCO1B1 poor metabolizer738760000
- Solute carrier organic anion transporter family member 1B1 poor function738760000
- SLCO1B1 decreased function738761001
- Solute carrier organic anion transporter family member 1B1 decreased function738761001
- CYP2B6 poor metaboliser738764009
- CYP2B6 poor metabolizer738764009
- Cytochrome P450 family 2 subfamily B member 6 poor metaboliser738764009
- Cytochrome P450 family 2 subfamily B member 6 poor metabolizer738764009
- CYP2C19 poor metaboliser738786005
- CYP2C19 poor metabolizer738786005
- Cytochrome P450 family 2 subfamily C member 19 poor metaboliser738786005
- Cytochrome P450 family 2 subfamily C member 19 poor metabolizer738786005
- CYP2C19 ultra-rapid metaboliser738790007
- CYP2C19 ultra-rapid metabolizer738790007
- Cytochrome P450 family 2 subfamily C member 19 ultra-rapid metaboliser738790007
- Cytochrome P450 family 2 subfamily C member 19 ultra-rapid metabolizer738790007
- CYP3A5 poor metaboliser739062009
- CYP3A5 poor metabolizer739062009
- Cytochrome P450 family 3 subfamily A member 5 poor metaboliser739062009
- Cytochrome P450 family 3 subfamily A member 5 poor metabolizer739062009
- Erythrocyte lactate transporter defect766715000
- Metabolic myopathy due to lactate transporter defect766715000
- Progressive polyneuropathy with bilateral striatal necrosis771305006
- CYP2B6 rapid metaboliser772077005
- CYP2B6 rapid metabolizer772077005
- Cytochrome P450 family 2 subfamily B member 6 rapid metaboliser772077005
- Cytochrome P450 family 2 subfamily B member 6 rapid metabolizer772077005
- CYP2B6 ultra-rapid metaboliser772078000
- CYP2B6 ultra-rapid metabolizer772078000
- Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metaboliser772078000
- Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metabolizer772078000
- NUDT15 intermediate metaboliser772108003
- NUDT15 intermediate metabolizer772108003
- Nudix hydrolase 15 intermediate metaboliser772108003
- Nudix hydrolase 15 intermediate metabolizer772108003
- NUDT15 possible intermediate metaboliser772109006
- NUDT15 possible intermediate metabolizer772109006
- Nudix hydrolase 15 possible intermediate metaboliser772109006
- Nudix hydrolase 15 possible intermediate metabolizer772109006
- NUDT15 poor metaboliser772110001
- NUDT15 poor metabolizer772110001
- Nudix hydrolase 15 poor metaboliser772110001
- Nudix hydrolase 15 poor metabolizer772110001
- Progressive retinal dystrophy due to retinol transport defect773576000
- Retinol dystrophy, iris coloboma, comedogenic acne syndrome773576000
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity785727000
- Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity785727000
- Cardiomyopathy due to storage disease860839005
- Hypertrophic cardiomyopathy due to lysosomal disease871649000
- Lysosomal disease with hypertrophic cardiomyopathy871649000
- Dilated cardiomyopathy due to lysosomal storage disease880038008
- Steatosis1187537008
- Ketoacidosis due to monocarboxylate transporter-1 deficiency1216941002
- Short stature, developmental delay, congenital heart defect syndrome1237512003
- TKT (transketolase) deficiency disorder1237512003
- Transketolase deficiency disorder1237512003
- CARKD deficiency1251446004
- NAD(P)HX dehydratase deficiency1251446004
- Apolipoprotein A-I binding protein deficiency1251447008
- NAD(P)HX epimerase deficiency1251447008
- Lipoyl transferase 2 deficiency1269231008
- MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency1293015005
- Methylmalonate semialdehyde dehydrogenase deficiency1293015005
- Deficiency of methylmalonyl-CoA epimerase1293018007
- Deficiency of methylmalonyl-CoA racemase1293018007
- Deficiency of methylmalonyl-coenzyme A epimerase1293018007
- Deficiency of methylmalonyl-coenzyme A racemase1293018007
- Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder1366322006
- TMLHE gene related carnitine deficiency disorder1366322006
- Carnitine deficiency due to inborn error of metabolism55341000119107
- Circulating enzyme deficiency80231000119105
- Disorder of GABA (gamma aminobutyric acid) metabolism16909721000119103
- Disorder of gamma aminobutyric acid metabolism16909721000119103
- Disorder of gamma-aminobutyric acid metabolism16909721000119103
Clinical Terms
- Deficiency of fumarate reductase
- Deficiency of isocitrate lyase
- Deficiency of ketogluconate dehydrogenase
- Deficiency of nucleoside-diphosphatase
- Sialuria
- Deficiency of malate dehydrogenase
- CYP2B6 rapid metabolizer
- Deficiency of phospholipase D
- Deficiency of succinyl-CoA synthetase (GDP-forming)
- Hypercatabolism
- Deficiency of dephospho-coenzyme A kinase
- Cytosolic acetoacetyl-CoA thiolase deficiency
- Deficiency of deoxyribonucleic acid nucleotidylexotransferase
- Deficiency of lysyl-tRNA synthetase
- Deficiency of ribokinase
- Deficiency of transformylase
- Deficiency of phosphoketotetrose aldolase
- Deficiency of triacylglycerol lipase
- Deficiency of citrogenase
- Deficiency of sarcoplasmic reticulum calcium adenosinetriphosphatase 1
- Deficiency of phosphomevalonate kinase
- Deficiency of phosphomonoesterase
- Deficiency of hydroxymethylglutaryl-coenzyme A synthase
- Deficiency of amylo-(1,4,6)-transglycosylase
- Deficiency of phosphomannose isomerase
- Deficiency of retinal isomerase
- Deficiency of pantothenoylcysteine decarboxylase
- Deficiency of glycoaldehydetransferase
- Disorder of GABA (gamma aminobutyric acid) metabolism
- Deficiency of glucosamine-phosphate acetyltransferase
- alpha-Methylacetoacetic aciduria
- Deficiency of nucleotidyltransferase
- Monoamine oxidase A deficiency
- Deficiency of hydroxysteroid sulphotransferase
- Deficiency of UDPglucose dehydrogenase
- Deficiency of endopeptidase
- Deficiency of formyltetrahydrofolate synthetase
- Deficiency of sarcoplasmic reticulum calcium adenosine triphosphatase 1
- Infantile sialic acid storage disease
- Deficiency of nicotinamide phosphoribosyltransferase
- Deficiency of pyrophosphokinase
- S-adenosylhomocysteine hydrolase deficiency
- Deficiency of nicotinamide methyltransferase
- Apolipoprotein A-I binding protein deficiency
- Deficiency of heparin eliminase
- SLCO1B1 poor metaboliser
- Deficiency of phosphatidate phosphatase
- Hypertrophic cardiomyopathy due to lysosomal disease
- NAD(P)HX dehydratase deficiency
- CYP2D6 ultra-rapid metabolizer
- Deficiency of nucleotidase
- CYP2B6 poor metabolizer
- Deficiency of true cholinesterase
- Deficiency of dehydrogenase
- Deficiency of lysolecithinase
- Folate deficiency
- Deficiency of heparin lyase
- Deficiency of alcohol sulfotransferase
- Deficiency of pancreatic elastase I
- Steroid 17-alpha-monooxygenase deficiency
- Disorder of oxygen transport
- Disorder of gamma-aminobutyric acid metabolism
- Deficiency of pectin demethoxylase
- Deficiency of guanine deaminase
- Lyngstadaas syndrome
- Deficiency of glucosamine acetylase
- Deficiency of acetyl-coenzyme A acetyltransferase
- Deficiency of phosphoribosylglycinamide formyltransferase
- Deficiency of w-amidase
- Deficiency of succinyl-CoA synthetase
- Deficiency of inosine monophosphate cyclohydrolase
- Pseudohypoaldosteronism, type 2
- Deficiency of ATP monophosphatase
- Deficiency of diamino oxhydrase
- Deficiency of uridine diphosphate-glucose dehydrogenase
- Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metabolizer
- NUDT15 poor metaboliser
- Deficiency of thiamine pyrophosphokinase
- Metabolic disorder of transport
- Pentose disorder
- Deficiency of pancreatic DNase II
- Deficiency of amidophosphoribosyltransferase
- Deficiency of nicotinamide adenine dinucleotide ^+^ nucleosidase
- Deficiency of pantetheine-phosphate adenylyltransferase
- Lysosomal disease with hypertrophic cardiomyopathy
- Deficiency of peptidase a
- Deficiency of sedoheptulokinase
- Deficiency of glutamine phosphoribosylpyrophosphate amidotransferase
- Deficiency of xylanase
- Deficiency of aldehyde-lyase
- Erythrocyte lactate transporter defect
- Cytochrome P450 family 2 subfamily B member 6 rapid metaboliser
- Deficiency of chymotrypsin
- Deficiency of dipeptide hydrolase
- CYP2C19 ultra-rapid metabolizer
- Deficiency of adrenaline oxidase
- Intestinal pseudo-trypsinogen deficiency
- Adenylate kinase deficiency
- Deficiency of RNA nucleotidyltransferase (DNA-directed)
- Deficiency of aconitase
- Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metaboliser
- Deficiency of acylase
- Deficiency of formate dehydrogenase
- Deficiency of pectinase
- Deficiency of phenylalanine 4-monooxygenase
- Deficiency of DPNase
- Meconium ileus
- Short stature, developmental delay, congenital heart defect syndrome
- Arylsulphatase deficiency without MLD (metachromatic leukodystrophy)
- Classic pseudohypoaldosteronism
- Hypermetabolism
- Deficiency of hexosyltransferase
- Deficiency of NAD(P)^+^ transhydrogenase
- Ethanolaminuria
- Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency
- Deficiency of hydroxy-acid oxidase A
- Deficiency of phosphorylase kinase
- Deficiency of thiamin pyrophosphokinase
- Deficiency of ATP pyrophosphatase
- NUDT15 possible intermediate metaboliser
- Deficiency of 1,3-beta-D-glucan-UDP glucosyltransferase
- Deficiency of epinephrine oxidase
- TPMT poor metaboliser
- Deficiency of tributyrase
- Deficiency of phosphoribosylglycinamide synthetase
- SLCO1B1 poor metabolizer
- Deficiency of leukotriene C4 synthase
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
- Mutase- methylmalonic acidemia
- Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity
- Deficiency of carboxyltransferase
- Etiocholanolone fever
- Deficiency of transaldolase
- Dilated cardiomyopathy due to lysosomal storage disease
- Deficiency of thiosulphate cyanide transsulphurase
- Deficiency of unspecific monooxygenase
- Deficiency of oxoglutarate dehydrogenase (lipoamide)
- Deficiency of creatine phosphokinase
- Disorder of lysosomal enzyme
- Deficiency of lipase
- Deficiency of chymosin
- Deficiency of acyltransferase
- Deficiency of hydroxymethylglutaryl-CoA reductase (NADPH)
- Deficiency of methylaspartate mutase
- Deficiency of exoribonuclease
- Sialic storage disease
- Deficiency of pepsin B
- Angio-oedema due to disorder of kinin metabolism
- Chronic diarrhoea of infants AND/OR young children
- Deficiency of transketolase
- Antiquitin deficiency
- Cardiomyopathy due to storage disease
- Deficiency of 3-mercaptopyruvate sulfurtransferase
- Folic acid transport defect
- Pseudohypoaldosteronism, Persian-Jewish type
- SLCO1B1 (solute carrier organic anion transporter family member 1B1) poor metabolizer
- Deficiency of lysolecithin acylmutase
- Deficiency of shikimate dehydrogenase
- Deficiency of choline kinase
- Deficiency of phosphodiester hydrolase
- Deficiency of butyrate-acetoacetate CoA-transferase
- Deficiency of phosphoric monoester hydrolase
- Meconium obstruction
- Deficiency of FAD pyrophosphorylase
- Deficiency of xylan endo-1,3-beta-xylosidase
- Deficiency of succinic dehydrogenase
- MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency
- Neurodegeneration due to cerebral folate transport deficiency
- PD-DEE - pyridoxine-dependent developmental and epileptic encephalopathy
- Diffuse organ or tissue uptake
- Autosomal recessive ataxia due to coenzyme Q10 deficiency
- Deficiency of peptide hydrolase
- Deficiency of amide synthase
- Deficiency of pyrophosphotransferase
- Deficiency of succinate- coenzyme A ligase (guanosine diphosphate-forming)
- Deficiency of prolyl dipeptidase
- Deficiency of alpha-ketoglutarate dehydrogenase
- Deficiency of galactonolactone dehydrogenase
- Deficiency of terminal addition enzyme
- Hypermethioninemia
- Deficiency of cytosol aminopeptidase
- Deficiency of thiamine pyridinylase
- Deficiency of rennin
- 3-Methylhydroxybutyric acidaemia
- Deficiency of NAD(P)H dehydrogenase (quinone)
- Deficiency of hydroxylase
- Deficiency of guanylate cyclase 2C
- Deficiency of acetokinase
- Deficiency of nicotinamide adenine dinucleotide ^+^ kinase
- Fumarase deficiency
- Deficiency of ADP deaminase
- Deficiency of methenyltetrahydrofolate cyclohydrolase
- Deficiency of carbon-sulphur lyase
- Vitamin B12-unresponsive methylmalonic acidaemia type mut-
- Deficiency of peptidase
- Deficiency of endo-1,4-beta-glucanase
- Deficiency of ethanolaminephosphotransferase
- 17 alpha-Hydroxylase deficiency
- Adenosine deaminase overproduction
- Deficiency of citrate(si)-synthase
- Amino acid deficiency
- Deficiency of lactoylglutathione lyase
- CYP2C9 poor metabolizer
- Deficiency of steroid 17-alpha-hydroxylase
- Deficiency of sulphinoalanine decarboxylase
- Deficiency of DNA nucleotidylexotransferase
- Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metaboliser
- Deficiency of succinyl-beta-ketoacyl-CoA transferase
- Deficiency of cysteine-sulphinate decarboxylase
- Deficiency of myo-inositol oxygenase
- Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
- CYP2B6 ultra-rapid metabolizer
- TKT (transketolase) deficiency disorder
- Partial deficiency of methylmalonyl-CoA mutase
- Deficiency of DPN kinase
- Deficiency of dephosphophosphorylase kinase
- Deficiency of hydroxy-acid oxidase B
- Deficiency of 3-mercaptopyruvate sulphurtransferase
- PGK - Phosphoglycerokinase deficiency
- Deficiency of adenylate kinase
- CYP2D6 poor metaboliser
- Deficiency of N-acetyl-beta-glucosaminidase
- Deficiency of proline dipeptidase
- Folinic acid responsive developmental and epileptic encephalopathy
- Deficiency of glucose phosphomutase
- DPYD poor metaboliser
- CYP2B6 rapid metaboliser
- Deficiency of adenylylsulfate kinase
- Deficiency of phosphogluconate dehydrogenase (decarboxylating)
- Hypotonia with failure to thrive and microcephaly syndrome
- Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
- Angioedema due to disorder of kinin metabolism
- Deficiency of fibrinolysin
- 3-Methylhydroxybutyric acidemia
- Deficiency of lyase
- Deficiency of UDPglucose pyrophosphorylase
- Deficiency of malic dehydrogenase
- Brunner syndrome
- Deficiency of glycinamide ribonucleotide synthetase
- TMLHE gene related carnitine deficiency disorder
- Deficiency of polygalacturonase
- Deficiency of peroxidase
- Deficiency of glycyl-glycine endopeptidase
- Deficiency of microsomal P450 flavoprotein-linked monooxygenase
- Pyridoxine-dependent developmental and epileptic encephalopathy
- Deficiency of aconitate hydratase
- Cytochrome P450 family 2 subfamily C member 19 ultra-rapid metaboliser
- Deficiency of alkaline phosphomonoesterase
- Deficiency of deoxyribonuclease I
- Deficiency of nucleosidase
- Deficiency of 6-phosphogluconic carboxylase
- Deficiency of ribosomal cathepsin
- Chronic diarrhoea due to glucoamylase deficiency
- Ketotic hypoglycaemia
- Deficiency of hyaluronidase
- Phosphoribosylpyrophosphate synthetase deficiency
- Deficiency of thioltransacetylase B
- Deficiency of DFPase
- 3-Ketothiolase deficiency
- Deficiency of aryl-4-monooxygenase
- Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder
- Deficiency of ribonuclease
- Deficiency of prolinase
- Deficiency of thiaminase I
- Deficiency of phosphokinase
- Hyperthermia-hyperphagia-hypothyroidism syndrome
- Leukotriene C4 synthase deficiency
- Deficiency of amidase
- Deficiency of riboflavin kinase
- Vitamin B12-unresponsive methylmalonic aciduria
- Deficiency of 6-phosphogluconic dehydrogenase
- Increased oxygen affinity
- Methylmalonate semialdehyde dehydrogenase deficiency
- Deficiency of adenosine triphosphate pyrophosphatase
- Deficiency of malate dehydrogenase (oxaloacetate-decarboxylating)
- Intestinal enteropeptidase deficiency
- Cytochrome p450 enzyme deficiency
- Deficiency of ubiquinone reductase
- Deficiency of cellulase
- Deficiency of acetylglucosamine phosphomutase
- Steatosis
- Deficiency of ligase
- Deficiency of di-isopropyl phosphorofluoridase
- Hypermethioninaemia due to S-adenosylhomocysteine hydrolase deficiency
- Deficiency of pepsin A
- Deficiency of NAD^+^ synthetase(glutamine-hydrolysing)
- Deficiency of carbon-carbon lyase
- Deficiency of isocitratase
- Deficiency of methyltransferase
- Disorder due to N-acetyltransferase enzyme variant
- Neonatal obstruction of intestine
- CAH - 17-hydroxylase deficiency
- Deficiency of ali-esterase
- Deficiency of aldoketomutase
- Deficiency of hyaluronoglucosaminidase
- Deficiency of (R)-20-hydroxysteroid dehydrogenase
- Steroid dehydrogenase deficiency and dental anomaly syndrome
- Arylsulfatase deficiency without MLD (metachromatic leukodystrophy)
- Deficiency of amine oxidase (pyridoxal containing)
- CARKD deficiency
- CYP3A5 poor metaboliser
- Deficiency of phosphoribosylamine-glycine ligase
- Deficiency of hydroxyalkyl-protein kinase
- Deficiency of protocatechuate 3,4-dioxygenase
- Subacute tyrosinosis
- Deficiency of isomerase
- Deficiency of lysophospholipase
- Deficiency of methylmalonyl-coenzyme A epimerase
- Deficiency of phosphopyruvate hydratase
- Deficiency of choline-phosphate cytidylyltransferase
- Deficiency of alpha-aminoacylpeptide hydrolase
- Disorder of blood gas
- Liposynovitis prepatellaris
- Deficiency of sulfokinase
- Deficiency of cocaine esterase
- Deficiency of monoamine oxidase A
- Dihydropyrimidine dehydrogenase poor metabolizer
- Circulating enzyme deficiency
- Deficiency of folic acid
- Deficiency of transoximinase
- SLCO1B1 poor function
- Deficiency of pepsin
- Deficiency of 3alpha-hydroxycholanate dehydrogenase
- Deficiency of succinate-coenzyme A ligase (adenosine diphosphate-forming)
- Cytochrome P450 family 2 subfamily C member 9 poor metaboliser
- Deficiency of tyraminase
- Disorder of steroid metabolism
- Solute carrier organic anion transporter family member 1B1 decreased function
- Pyridoxine-dependent epilepsy
- Deficiency of myokinase
- SLCO1B1 (solute carrier organic anion transporter family member 1B1) poor metaboliser
- Deficiency of DNase II
- CYP3A5 poor metabolizer
- Deficiency of UTP-glucose-1-phosphate uridylyltransferase
- Deficiency of adenosine diphosphate deaminase
- Deficiency of diphosphomevalonate decarboxylase
- Deficiency of hydrolyase
- Deficiency of B-esterase
- Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metabolizer
- Deficiency of dimethylallyltranstransferase
- Complete mevalonate kinase deficiency
- Deficiency of oxalate coenzyme A-transferase
- Deficiency of pancreatic Dnase
- CYP2C19 poor metaboliser
- Congenital enteropathy due to enteropeptidase deficiency
- Deficiency of NADase
- Deficiency of tannase
- Deficiency of angiotensinogenase
- Deficiency of choline esterase I
- Disorder of iodine metabolism
- Deficiency of dephospho-CoA pyrophosphorylase
- NUDT15 intermediate metaboliser
- Pancreatic colipase deficiency
- Dilated cardiomyopathy due to metabolic disorder
- Deficiency of UMP pyrophosphorylase
- Deficiency of diphenol oxidase
- Deficiency of fibrinase
- Pancreatic malabsorption
- Deficiency of nicotinamide adenine dinucleotidase
- Deficiency of progesterone 11alpha-hydroxylase
- Deficiency of thioether hydrolase
- Deficiency of nicotinamide adenine dinucleotide phosphate ^+^ transhydrogenase
- Deficiency of methylmalonyl-coenzyme A mutase
- Deficiency of aspartic proteinase
- Deficiency of phosphopantothenoylcysteine synthetase
- Ethanolamine kinase deficiency
- Deficiency of orotate phosphoribosyltransferase
- Deficiency of nucleoside-diphosphate kinase
- Pseudohypoaldosteronism
- Deficiency of phospholipase B
- Deficiency of type I dehydrogenase
- Fumarate hydratase deficiency
- Deficiency of pyruvic-malic carboxylase
- Deficiency of sulfinoalanine decarboxylase
- Deficiency of phosphatase
- Meconium ileus due to guanylate cyclase 2C deficiency
- Sialuria, French type
- Deficiency of carbamoyltransferase
- Retinol dystrophy, iris coloboma, comedogenic acne syndrome
- Trypsinogen deficiency
- Deficiency of ribose-phosphate pyrophosphokinase
- Deficiency of glutamate mutase
- Deficiency of hydroxysteroid sulfotransferase
- Deficiency of mutase
- Deficiency of butyrylcholinesterase
- Deficiency of lecithinase A
- Deficiency of chlorophyllase
- Decreased oxygen affinity
- Deficiency of phenolase (di)
- Deficiency of citrate condensing enzyme
- Pyruvate kinase deficiency
- Deficiency of thiosulfate cyanide transsulfurase
- Deficiency of phosphoriboisomerase
- Deficiency of ADP-sulphurylase
- Deficiency of alpha- and beta-trypsin
- Deficiency of hexose oxidase
- Deficiency of phosphoric diester hydrolase
- Metabolic cardiomyopathy
- TKT (transketolase) deficiency
- Deficiency of cathepsin C
- Deficiency of glycerol-3-phosphate acyltransferase
- Deficiency of mannose-6-phosphate isomerase
- Partial deficiency of methylmalonyl-coenzyme A mutase
- Uridine diphosphate glucuronosyltransferase family 1 member A1 poor metaboliser
- Disorder of propionate AND/OR methylmalonate metabolism
- Deficiency of transhydrogenase
- Deficiency of carbamoylaspartic dehydrase
- Cytochrome p450 CYP1A2 enzyme deficiency
- Deficiency of phenol sulfotransferase
- Deficiency of DNase
- Deficiency of nitrate reductase
- Deficiency of plasmin
- Deficiency of mevaldate reductase
- UTP-hexose-1-phosphate uridyltransferase deficiency
- Deficiency of oximinotransferase
- Deficiency of succinate-CoA ligase (ADP-forming)
- NUDT15 poor metabolizer
- Deficiency of dipeptidyl peptidase I
- Deficiency of acetoacetyl-CoA thiolase
- Complete deficiency of methylmalonyl-coenzyme A mutase
- Deficiency of diamino-acid aminotransferase
- Deficiency of deoxyribonuclease II
- Deficiency of endo-1,3-beta-xylanase
- Clinical manifestation of enzyme deficiency
- CYP2C19 poor metabolizer
- Deficiency of sulfate adenylyltransferase (ADP)
- Arylsulphatase deficiency without metachromatic leucodystrophy
- Deficiency of oxygenase
- Deficiency of ADP-sulfurylase
- UGT1A1 poor metabolizer
- Deficiency of arylamine acetyltransferase
- Deficiency of nicotinamide adenine dinucleotide ^+^ synthase (glutamine-hydrolysing)
- Deficiency of fumarylacetoacetase
- Deficiency of ribosylnicotinamide kinase
- Deficiency of oxidase
- Deficiency of enterokinase
- Deficiency of branching enzyme
- Deficiency of methylenetetrahydrofolate dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^)
- Deficiency of succinate dehydrogenase
- Deficiency of erythrulose-1-phosphate synthetase
- Vitamin B6-dependent seizures
- Deficiency of glycolate oxidase
- 17-KSR deficiency
- Deficiency of transamidinase
- Deficiency of triphosphoric monoester hydrolase
- Deficiency of lysostaphin
- Deficiency of 3-oxoacid coenzyme A-transferase
- Aromatase excess syndrome
- Deficiency of phosphoglucosamine transacetylase
- Deficiency of cysteine-sulfinate decarboxylase
- Deficiency of phosphohexoisomerase
- Deficiency of monodehydroascorbate reductase (NADH)
- Thiopurine S-methyltransferase poor metaboliser
- Deficiency of DNA-directed RNA polymerase
- Deficiency of monodehydroascorbate reductase (reduced nicotinamide adenine dinucleotide)
- Deficiency of phosphoprotein phosphatase
- Hyperimidodipeptiduria
- Deficiency of glycerophosphatase
- Deficiency of racemase
- Deficiency of carbon-nitrogen lyase
- Deficiency of isopentenyl-diphosphate delta-isomerase
- Deficiency of NAD(P)^+^ nucleosidase
- Deficiency of heparinase
- Increased oxygen demand
- Arylsulfatase deficiency without metachromatic leukodystrophy
- CAH - 17-alpha-hydroxysteroid dehydrogenase deficiency
- Cytochrome P450 family 3 subfamily A member 5 poor metaboliser
- Deficiency of phosphorus-oxygen lyase
- Deficiency of N-acetylneuraminic acid aldolase
- Folic acid deficiency (non anemic)
- Nudix hydrolase 15 intermediate metaboliser
- Fast acetylator
- Deficiency of (S)-2-hydroxy-acid oxidase
- Deficiency of mevalonate kinase
- Deficiency of oxaloacetate transacetase
- Deficiency of phenol sulphotransferase
- Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase
- DPYD poor metabolizer
- Mutase0 methylmalonic acidaemia
- Folinic acid responsive seizures
- Deficiency of amine oxidase
- Deficiency of fibrinogenase
- Deficiency of dipeptidylpeptide hydrolase
- Deficiency of formaldehyde dehydrogenase
- Deficiency of formamidase
- Deficiency of phenylpyruvate tautomerase
- Ketoacidosis due to monocarboxylate transporter-1 deficiency
- Deficiency of phosphorylcholine-glyceride transferase
- Deficiency of nicotinate dehydrogenase
- Deficiency of phenylalaninase
- Congenital defect of folate absorption
- Deficiency of diphosphotransferase
- Deficiency of imidodipeptidase
- Guanylate cyclase 2C deficiency
- Deficiency of NADH dehydrogenase (ubiquinon)
- Deficiency of carbamate kinase
- Deficiency of oxo-acid-lyase
- Deficiency of histidinol dehydrogenase
- Deficiency of methylglyoxalase
- GPI - Glucose phosphate isomerase deficiency
- Proteinosis
- Coenzyme Q10 deficiency
- Deficiency of squalene epoxidase
- Deficiency of nicotinamide-nucleotide adenylyltransferase
- Increased metabolic requirement
- Nudix hydrolase 15 possible intermediate metaboliser
- Deficiency of choline acetyltransferase
- Deficiency of lipophosphodiesterase II
- Deficiency of S-adenosylhomocysteine hydrolase
- Deficiency of Xaa-Pro dipeptidase
- Deficiency of adenylylsulphate kinase
- Deficiency of alcohol sulphotransferase
- Deficiency of methylglutaconyl-CoA hydratase
- Deficiency of thiosulfate thiotransferase
- Deficiency of D-2-hydroxy-acid dehydrogenase
- Hypermethioninaemia
- Deficiency of diamine oxidase
- Disorder of sialic acid metabolism
- Deficiency of alpha-1,4-glucan-protein synthase (UDP-forming)
- Oxoglutaricaciduria
- Deficiency of arylamine acetylase
- Deficiency of amine oxidase (flavin-containing)
- Deficiency of microsomal monooxygenase
- Cytochrome P450 family 2 subfamily B member 6 poor metaboliser
- Deficiency of UTP-hexose-1-phosphate uridylyltransferase
- Deficiency of succinate-CoA ligase
- Carnitine deficiency
- Deficiency of choline acetylase
- Deficiency of thrombin
- Deficiency of succinyl-CoA hydrolase
- Deficiency of isobutyryl-coenzyme A dehydrogenase
- Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^)
- Deficiency of UDPglucose-1,3-beta-D-glucan glucosyltransferase
- Nudix hydrolase 15 poor metabolizer
- Deficiency of pyrroline-2-carboxylate reductase
- Deficiency of isobutyryl-CoA dehydrogenase
- Deficiency of reductase
- Deficiency of retinene isomerase
- Deficiency of peptidoglycan endopeptidase
- Cytochrome P450 family 3 subfamily A member 5 poor metabolizer
- Deficiency of phosphoribosyldiphosphate 5-amidotransferase
- Deficiency of monooxygenase
- Deficiency of protein phosphatase
- NUDT15 intermediate metabolizer
- Deficiency of acetylcholinesterase
- Deficiency of transacylase
- Deficiency of L-gulonate dehydrogenase
- Deficiency of monobutyrase
- Deficiency of acetylesterase
- Deficiency of dehydrogluconate dehydrogenase
- Increased aromatase activity
- Deficiency of leucine aminopeptidase
- Deficiency of cholinephosphotransferase
- Deficiency of phosphoribulose epimerase
- Deficiency of transmethylase
- Deficiency of quinone reductase
- Deficiency of hydroxymethylglutaryl-coenzyme A reductase (reduced nicotinamide adenine dinucleotide phosphate)
- Deficiency of tyrosine aminotransferase
- Deficiency of methylbutyrase
- Solute carrier organic anion transporter family member 1B1 poor function
- Cytochrome p450 CYP2E1 enzyme deficiency
- Deficiency of carboxylesterase
- Deficiency of phosphorylase phosphatase
- Deficiency of pyridine nucleotide transhydrogenase
- Deficiency of ether hydrolase
- 17-Ketosteroid reductase deficiency
- Deficiency of L-3-aldonate dehydrogenase
- Deficiency of butyrate-acetoacetate coenzyme A-transferase
- Deficiency of triglyceride lipase
- Deficiency of L-prolylglycine dipeptidase
- Deficiency of dihydroorotase
- Mucolipidosis
- Phosphoglycerokinase deficiency
- Deficiency of ketogluconokinase
- Deficiency of phenylalanine 4-hydroxylase
- Deficiency of sulphotransferase
- Deficiency of ketotetrose-phosphate aldolase
- Deficiency of 1,3-beta-glucan synthase
- Deficiency of succinate-CoA ligase (GDP-forming)
- Deficiency of dipeptidyl-amino-peptidase I
- Transient pseudohypoaldosteronism
- Deficiency of enteropeptidase
- Deficiency of uridine triphosphate-glucose-1-phosphate uridylyltransferase
- Non-amino organic acidaemia AND/OR aciduria
- Deficiency of angiotensin-forming enzyme
- Deficiency of amine oxidase (copper-containing)
- Deficiency of omega peptidase
- Deficiency of N-acetylneuraminate lyase
- Deficiency of orotidylic acid phosphorylase
- Vitamin B12-unresponsive methylmalonic acidaemia type mut0
- Deficiency of pectin depolymerase
- Prepatellar bursitis
- Deficiency of methylglutaconyl-coenzyme A hydratase
- Nudix hydrolase 15 possible intermediate metabolizer
- Nudix hydrolase 15 intermediate metabolizer
- Cytochrome P450 family 2 subfamily C member 9 poor metabolizer
- Deficiency of pancreatic elastase
- Deficiency of adenylpyrophosphatase
- Deficiency of acylamidase
- Deficiency of glutathione reductase (reduced nicotinamide adenine dinucleotide phosphate)
- Cytochrome P450 family 2 subfamily D member 6 poor metaboliser
- Deficiency of phosphoamidase
- Slow acetylator
- Pseudohypoaldosteronism, type 1
- Deficiency of DNA nucleotidyltransferase (DNA-directed)
- Ketonaemia
- CYP2C9 poor metaboliser
- Deficiency of protein kinase
- Deficiency of pantetheine kinase
- Deficiency of metalloproteinase
- Deficiency of polyphenol oxidase
- Deficiency of clostridium welchii alpha-toxin
- Congenital adrenal hyperplasia, type 5
- Deficiency of terminal deoxyribonucleotidyltransferase
- Deficiency of estradiol 6beta-hydroxylase
- Deficiency of phosphoglycerate phosphomutase
- Deficiency of ribosomal neutral proteinase
- Deficiency of acid-ammonia ligase
- Deficiency of protease
- Deficiency of diphosphoric monoester hydrolase
- Deficiency of nucleotide pyrophosphatase
- Deficiency of amine ligase
- Deficiency of phosphoglyceromutase
- Deficiency of hydroxymethylglutaryl-CoA hydrolase
- Deficiency of pancreaopeptidase E
- Deficiency of isocitrase
- Deficiency of aldehyde dehydrogenase (nicotinamide adenine dinucleotide ^+^)
- Deficiency of dephospho-CoA kinase
- Patchy organ or tissue uptake
- CYP2D6 poor metabolizer
- Deficiency of dihydroxyacetonetransferase
- Deficiency of polynucleotide phosphorylase
- Perinatal intestinal obstruction
- Deficiency of arylesterase
- NUDT15 possible intermediate metabolizer
- Deficiency of catechol oxidase
- Vitamin B12-unresponsive methylmalonic acidemia type mut0
- Deficiency of thiosulfate sulfurtransferase
- 17B-HSD deficiency
- Deficiency of thymonuclease
- Disorder of beta and omega amino acid metabolism
- Deficiency of inorganic pyrophosphatase
- Deficiency of phosphogluconic acid dehydrogenase
- Deficiency of phospholipase C
- Deficiency of cathepsin D
- Deficiency of Zeta-chain associated protein kinase 70
- Folate transport defect
- Impaired oxygen extraction
- Pseudohypoadrenocorticalism
- Deficiency of diisopropyl-fluorophosphatase
- Deficiency of pectin methoxylase
- Deficiency of phosphatidolipase
- Thiopurine S-methyltransferase poor metabolizer
- Autosomal recessive ataxia due to ubiquinone deficiency
- Deficiency of NAD^+^ synthase (glutamine-hydrolysing)
- Deficiency of carbon-oxygen lyase
- Deficiency of hyaluronate lyase
- Deficiency of menadione reductase
- Deficiency of muramidase
- SLCO1B1 decreased function
- Deficiency of squalene monooxygenase
- Deficiency of uronolactonase
- Mutase0 methylmalonic acidemia
- Deficiency of tripeptide aminopeptidase
- Deficiency of formate-tetrahydrofolate ligase
- Gordon hyperkalaemia-hypertension syndrome
- Deficiency of sulfurtransferase
- Deficiency of ribulose-phosphate 3-epimerase
- Chronic diarrhea of infants AND/OR young children
- Folic acid deficiency
- Deficiency of hydrolase
- Deficiency of glucose-1-phosphate uridylyltransferase
- Deficiency of phospholipase A>2<
- Deficiency of synthetase
- Deficiency of epimerase
- Progressive retinal dystrophy due to retinol transport defect
- Deficiency of chymotrypsin A and B
- Deficiency of alpha-1,4-glucan-protein synthase (uridine diphosphate-forming)
- Maltase glucoamylase deficiency
- Deficiency of sulfuric ester hydrolase
- Pseudohypoaldosteronism, type 1, dominant form
- Deficiency of methylmalonyl-coenzyme A racemase
- Deficiency of phosphatidase
- Deficiency of alpha-ketoglutaric dehydrogenase
- Mutase- methylmalonic acidaemia
- Deficiency of tropinesterase
- Deficiency of amidinotransferase
- Deficiency of phosphorylethanolamine transferase
- Deficiency of inosine monophosphate dehydrogenase
- Deficiency of HMG-CoA reductase
- Deficiency of lecithinase C
- MMUT-gene related complete deficiency of methylmalonyl-coenzyme A mutase
- Intestinal enterokinase deficiency
- Deficiency of nicotinamide adenine dinucleotide phosphate ^+^ nucleosidase
- Deficiency of aryl sulphotransferase
- Deficiency of erythritol kinase
- Hyperimidodipeptiduria due to proline dipeptidase deficiency
- Deficiency of phosphoketolase
- Deficiency of diisopropylfluorophosphonate halogenase
- Progressive polyneuropathy with bilateral striatal necrosis
- Deficiency of sulfotransferase
- Deficiency of metallocarboxypeptidase
- Deficiency of clostridium edematens beta- and gamma-toxins
- Deficiency of methylmalonyl-CoA racemase
- Deficiency of DPN hydrolase
- Deficiency of endoribonuclease
- Deficiency of formiminotetrahydrofolate cyclodeaminase
- Cytochrome p450 CYP3A enzyme deficiency
- Deficiency of flavokinase
- Deficiency of glycerate kinase
- Deficiency of heptulokinase
- Ketotic hypoglycemia
- Deficiency of hydrogen-sulfide acetyltransferase
- Adrenogenital disorder due to 17-alpha-hydroxylase deficiency
- Deficiency of 2-phosphoglycerate dehydratase
- Deficiency of DNA-directed DNA polymerase
- Deficiency of mannitol dehydrogenase
- Inherited disorder of folate metabolism
- Increased auto-oxidation
- Deficiency of aldehyde oxidase
- Complete deficiency of methylmalonyl-CoA mutase
- Deficiency of succinyl-CoA synthetase (ADP-forming)
- Autosomal recessive spinocerebellar ataxia type 9
- Deficiency of beta-diketonase
- Deficiency of geranyl-diphosphate synthase
- ZAP70 (Zeta-chain associated protein kinase 70) deficiency
- Deficiency of riboflavin mononucleotide adenylyltransferase
- Deficiency of oxalate CoA-transferase
- Deficiency of sulphuric ester hydrolase
- Chronic diarrhea due to glucoamylase deficiency
- Disorder of protein metabolism
- Deficiency of dehydratase
- Deficiency of acetyl-CoA acetyltransferase
- Deficiency of dextranase
- Deficiency of azobenzene reductase
- Sialic acid storage disease, severe infantile type
- Deficiency of pyruvate kinase
- Corticosteroid 11-reductase deficiency
- Deficiency of sialidase
- Deficiency of IMP dehydrogenase
- CYP2C19 ultra-rapid metaboliser
- Deficiency of hydroxymethylglutaryl-CoA synthase
- Cathepsin D deficiency
- Deficiency of callose synthetase
- Deficiency of phosphotransferase
- Deficiency of NAD^+^ nucleosidase
- Transketolase deficiency disorder
- Deficiency of lysozyme
- Deficiency of hydrogen-sulphide acetyltransferase
- Deficiency of ribose-5-phosphate isomerase
- Deficiency of oxoglutarate decarboxylase
- Pyridoxine-dependent DEE (developmental and epileptic encephalopathy)
- Deficiency of NAD^+^ kinase
- Deficiency of IMP cyclohydrolase
- Cerebral folate deficiency
- Deficiency of dehydrogluconokinase
- Deficiency of sulphurtransferase
- Deficiency of creatine kinase
- Hoffa disease
- Deficiency of transcarbamoylase
- Decreased requirement
- Deficiency of guanine aminase
- Cytochrome P450 family 2 subfamily B member 6 poor metabolizer
- Deficiency of aldehyde dehydrogenase (NAD^+^)
- Deficiency of malate oxidase
- Deficiency of phosphopantothenate-cysteine ligase
- Deficiency of protocatechuate oxygenase
- Fumarylacetoacetase deficiency, acute type
- Deficiency of cortisone reductase
- ARCA2 - autosomal recessive cerebellar ataxia type 2
- Deficiency of o-diphenolase
- Deficiency of prolidase
- Deficiency of transcarboxylase
- Gordon hyperkalemia-hypertension syndrome
- Deficiency of reduced nicotinamide adenine dinucleotide phosphate dehydrogenase (quinone)
- Deficiency of renin
- Organic acid metabolism disorder
- Deficiency of pectinesterase
- Tissue shunting
- Slow acetylator due to N-acetyltransferase enzyme variant
- Deficiency of condensing enzyme
- Deficiency of nucleoside-phosphate kinase
- Deficiency of oligoglucanbranching glycosyltransferase
- Deficiency of progesterone 11alpha-monooxygenase
- Glutathione S-transferase deficiency
- Hereditary folate malabsorption
- Deficiency of paraoxonase
- Deficiency of phylloquinone reductase
- Pseudohypoaldosteronism, type 1, recessive form
- Cytochrome P450 family 2 subfamily C member 19 ultra-rapid metabolizer
- Deficiency of glucosamine acetyltransferase
- Deficiency of dipeptidase
- Deficiency of phosphoglycerate mutase
- Deficiency of sulphite reductase
- Iminodipeptiduria
- Dihydropyrimidine dehydrogenase poor metaboliser
- Deficiency of ethanolamine-phosphate cytidylyltransferase
- Deficiency of phosphoenol transphosphorylase
- Deficiency of carboxylic ester hydrolase
- Deficiency of lecithinase D
- Deficiency of phosphoglucosamine acetylase
- Mevalonic aciduria
- Deficiency of transformiminase
- PK - Pyruvate kinase deficiency
- Deficiency of methylmalonyl-CoA epimerase
- Deficiency of pectin methylesterase
- Deficiency of sulfite reductase
- Intestinal obstruction of newborn
- Decreased metabolic requirement
- Lysosomal enzyme disorder
- Deficiency of transferase
- MMUT-gene related partial deficiency of methylmalonyl-coenzyme A mutase
- Muscle D-lactate dehydrogenase deficiency
- Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon)
- Cytosolic acetoacetyl-coenzyme A thiolase deficiency
- Neutral 17-beta-hydroxysteroid oxidoreductase deficiency
- Deficiency of adenosinetriphosphatase
- Deficiency of ATPase
- Deficiency of phosphopentosisomerase
- Deficiency of sulfate adenylyltransferase (adenosine diphosphate)
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - non-potassium stimulated
- Deficiency of steroid 17-alpha-monooxygenase
- ZAP70 deficiency
- Deficiency of phosphogluconate dehydrogenase
- Deficiency of thiosulphate sulphurtransferase
- Deficiency of A-esterase
- Deficiency of thiosulphate thiotransferase
- Disorder of gamma aminobutyric acid metabolism
- Impaired oxygen delivery
- Deficiency of sulphate adenylyltransferase (ADP)
- Congenital enterokinase deficiency
- Deficiency of hydroxyacylglutathione hydrolase
- Cytochrome P450 family 2 subfamily C member 19 poor metaboliser
- Ethanolaminosis
- Disorder of cortisol-cortisone shuttle
- Deficiency of fumaric hydrogenase
- Deficiency of butyrylcholine esterase
- Methylcrotonic aciduria
- Deficiency of L-arabinose dehydrogenase
- Deficiency of glycerone-transferase
- Deficiency of NAD^+^ pyrophosphorylase
- Pseudohypoaldosteronism type 2A
- Deficiency of dipeptidyl transferase
- Deficiency of glycogen synthase a kinase
- Deficiency of methylmalonyl-CoA mutase
- Deficiency of dioxygenase
- Congenital malabsorption of folic acid
- Deficiency of 2,5-diaminovalerate aminotransferase
- Deficiency of phosphoribokinase
- Deficiency of acetate kinase
- Deficiency of formyltetrahydrofolate deformylase
- Erythrocyte enzyme deficiency
- Non-amino organic acidemia AND/OR aciduria
- Deficiency of respiratory nitrate reductase
- Deficiency of oestradiol 6beta-monooxygenase
- Deficiency of serine proteinase
- Deficiency of carbon-sulfur lyase
- CYP2D6 ultra-rapid metaboliser
- Cytochrome P450 family 2 subfamily C member 19 poor metabolizer
- Deficiency of phosphoenolpyruvate kinase
- Deficiency of thiolester hydrolase
- Uridine diphosphate glucuronosyltransferase family 1 member A1 poor metabolizer
- Launois-Bensaude adenolipomatosis
- Deficiency of prenyltransferase
- Cytochrome P450 family 2 subfamily D member 6 poor metabolizer
- Deficiency of benzoylcholinesterase
- Lysosomal enzyme defect
- Rowley-Rosenberg syndrome
- Deficiency of sulphokinase
- Deficiency of alkaline phosphatase
- Deficiency of deoxyribonucleic acid-directed ribonucleic acid polymerase
- Deficiency of succinate-coenzyme A ligase
- UGT1A1 poor metaboliser
- Deficiency of estradiol 6beta-monooxygenase
- Sialuria, infantile type
- Acetoacetyl-CoA thiolase deficiency
- Deficiency of 3-oxoadipate CoA-transferase
- Deficiency of trypsin
- Deficiency of monoamine oxidase
- Mevalonate kinase deficiency
- Deficiency of lysolecithin migratase
- CYP2B6 ultra-rapid metaboliser
- Deficiency of NMN pyrophosphorylase
- Nudix hydrolase 15 poor metaboliser
- Deficiency of clostridium oedematens beta- and gamma-toxins
- Deficiency of deoxyribonucleic acid-directed deoxyribonucleic acid polymerase
- Beat knee
- TPMT poor metabolizer
- Deficiency of enolase
- Deficiency of cathepsin R
- Deficiency of phosphoglucomutase
- Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase
- Deficiency of phosphohexomutase
- Mitochondrial 2-methylacetoacetyl-coenzyme A thiolase deficiency - non-potassium stimulated
- Deficiency of pyrimidine transferase
- Carnitine deficiency due to inborn error of metabolism
- Ketosis
- Deficiency of sarcoplasmic reticulum calcium-ATPase 1
- Deficiency of uracil dehydrogenase
- Deficiency of complex I dehydrogenase
- Ketonemia
- Deficiency of FMN adenylyltransferase
- Deficiency of pyridoxamine-phosphate oxidase
- Specific enzyme deficiency
- Deficiency of guanase
- Deficiency of pyridoxal kinase
- Deficiency of phosphoadenylate 3'-nucleotidase
- Deficiency of malate dehydrogenase (decarboxylating)
- Deficiency of dimethylallyltransferase
- Deficiency of alkylhalidase
- Deficiency of phosphoacetylglucosamine mutase
- Deficiency of 3-oxoacid CoA-transferase
- Increased requirement
- Deficiency of 3-oxoadipate coenzyme A-transferase
- Deficiency of isocitritase
- Deficiency of 1,4-alpha-glucan branching enzyme
- Deficiency of aryl hydrocarbon hydroxylase
- Deficiency of lysine-transfer ribonucleic acid ligase
- Cerebral folate transport deficiency
- Deficiency of glutathione reductase (NAD(P)H)
- Deficiency of phosphorylcholine transferase
- Deficiency of polyribonucleotide nucleotidyltransferase
- Deficiency of succinyl-CoA acylase
- Deficiency of adenosine kinase
- Deficiency of succinyl-coenzyme A hydrolase
- Dilated cardiomyopathy secondary to metabolic disorder
- Dilated cardiomyopathy due to familial storage disease
- Deficiency of pentosyltransferase
- Deficiency of glucosamine kinase
- Deficiency of limit dextrinase
- Metabolic myopathy due to lactate transporter defect
- NAD(P)HX epimerase deficiency
- Deficiency of lactonase
- Disorder of organic acid metabolism
- CYP2B6 poor metaboliser
- Deficiency of uracil phosphoribosyltransferase
- Glucose phosphate isomerase deficiency
- Deficiency of thiamin pyridinylase
- Deficiency of nicotinate phosphoribosyltransferase
- Deficiency of aryl sulfotransferase
- Deficiency of ribulokinase
- Cytochrome P450 family 2 subfamily B member 6 rapid metabolizer
- Deficiency of oestradiol 6beta-hydroxylase
- Deficiency of halogenase
- Vitamin B12-unresponsive methylmalonic acidemia type mut-
- Deficiency of carbon-halide lyase
- Testosterone 17-beta-dehydrogenase deficiency
- Vitamin B12-unresponsive methylmalonic aciduria type mut0
- Deficiency of lysine-tRNA ligase
- Deficiency of thioethanolamine acetyltransferase
- Deficiency of neuraminidase
- Deficiency of ketone-aldehyde mutase
- Deficiency of steroid delta-isomerase
- Deficiency of lichenase
- Fast acetylator due to N-acetyltransferase enzyme variant
- Lipoyl transferase 2 deficiency
- Deficiency of cytosol non-specific dipeptidase
Frequently Asked Questions
What is the ICD-10 code for other specified metabolic disorders?
The ICD-10-CM code for other specified metabolic disorders is E88.89. The full clinical description is "Other specified metabolic disorders". E88.89 is a billable/specific code that can be used on insurance claims and medical billing.
What does ICD-10 code E88.89 mean?
ICD-10-CM code E88.89 represents “Other specified metabolic disorders”. It is classified under Chapter 4: Endocrine, Nutritional and Metabolic Diseases and is a billable/specific code that can be used on a claim.
Is E88.89 a billable code?
Yes, E88.89 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.
What chapter is E88.89 in?
E88.89 is in Chapter 4: Endocrine, Nutritional and Metabolic Diseases (codes E00-E89).
What codes cannot be used with E88.89?
E88.89 has Excludes1 notes indicating codes that cannot be used together with it, including: transitory endocrine and metabolic disorders specific to newborn (P70-P74); androgen insensitivity syndrome (E34.5-); congenital adrenal hyperplasia (E25.0); and 5 more.
Are additional codes required with E88.89?
Yes, when using E88.89, also report: codes for associated conditions.
What SNOMED CT codes does E88.89 map to?
E88.89 maps to 463 SNOMED CT concepts: 124220008, 50658006, 124258007, 725394006, 234408006, and 458 more. SNOMED CT is a clinical terminology used in electronic health records.
What are the UMLS CUIs for E88.89?
E88.89 is linked to 2 UMLS Concept Unique Identifiers: C1386301, C0494362. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.
How does E88.89 relate to ICF functioning codes?
ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like other specified metabolic disorders affect a person's functioning: body functions, activities, participation, and environmental factors. AutoICD provides ICF Core Sets for 12+ conditions and can map clinical text to ICF categories automatically. Browse the ICF directory to explore functioning codes.
What is the ICD-11 equivalent of E88.89?
There is no direct ICD-11 mapping available for E88.89 in the WHO crosswalk tables. This may mean the concept is classified differently in ICD-11. Use the ICD-10 to ICD-11 converter to search for related codes.
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Includes SNOMED Clinical Terms® (SNOMED CT®) used by permission of SNOMED International. Includes content from the UMLS Metathesaurus, courtesy of the U.S. National Library of Medicine.