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 newborn (P70-P74)
- androgen insensitivity syndrome (E34.5-)
- congenital adrenal hyperplasia (E25.0)
- hemolytic anemias attributable to enzyme disorders (D55.-)
- Marfan syndrome (Q87.4-)
- 5-alpha-reductase deficiency (E29.1)
- histiocytosis X (chronic) (C96.6)
- adult pulmonary Langerhans cell histiocytosis (J84.82)
Excludes 2
Conditions not included here, but the patient may have both
- Ehlers-Danlos syndromes (Q79.6-)
Use Additional Code
Additional codes that should follow this code
- codes for associated conditions
Also Known As / Clinical Terms
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
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 you should also code: 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.
Automate ICD-10 Coding With AI
Send clinical text to the AutoICD API and get back structured ICD-10 codes with confidence scores. Integrates into any EHR or billing system in minutes.
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.