Enzymopathy

Specific enzyme deficiency (disorder)
	Specific enzyme deficiency
	deficiëntie van specifiek enzym
	tekort van een bepaald enzym

Id	129456006
Status	Primitive

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target
Rule	TRUE
Advice	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
Correlation	SNOMED CT source code to target map code correlation not specified

3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency

Acetyl-CoA carboxylase deficiency

Adenosine deaminase deficiency1

Adenylosuccinate lyase deficiency

Adult G6PD deficiency of leukocytes syndrome

Arginase deficiency

Argininosuccinate lyase deficiency

Cholesteryl ester transfer protein deficiency

Coenzyme Q10 deficiency2

Cystathionine beta-synthase deficiency

Cystathionine gamma-lyase deficiency

Cytochrome p450 enzyme deficiency3

Cytochrome P450 oxidoreductase deficiency

Deficiency of (R)-20-hydroxysteroid dehydrogenase

Deficiency of (S)-2-hydroxy-acid oxidase

Deficiency of 11-beta hydroxysteroid dehydrogenase

Deficiency of 2-hydroxyglutarate dehydrogenase

Deficiency of 2-methylbutyryl-CoA dehydrogenase

Deficiency of 24-hydroxylase

Deficiency of 3'-nucleotidase

Deficiency of 3-hydroxyacyl-CoA dehydrogenase

Deficiency of 3-hydroxybutyrate dehydrogenase

Deficiency of 3-hydroxybutyryl-CoA epimerase

Deficiency of 3-hydroxyisobutyrate dehydrogenase

Deficiency of 3-hydroxyisobutyryl CoA hydrolase

Deficiency of 3alpha-hydroxycholanate dehydrogenase

Deficiency of 3alpha-hydroxysteroid dehydrogenase

Deficiency of 3beta-hydroxysteroid dehydrogenase

Deficiency of 4-hydroxy-2-oxoglutarate aldolase

Deficiency of 5'-nucleotidase

Deficiency of A-ase

Deficiency of acetate-CoA ligase

Deficiency of acetoacetyl-CoA reductase

Deficiency of acetyl-CoA acylase

Deficiency of acetyl-CoA deacylase

Deficiency of acetyl-CoA hydrolase

Deficiency of acetylcholinesterase2

Deficiency of acetylesterase

Deficiency of acid-aminoacid ligase

Deficiency of acid-ammonia ligase

Deficiency of aconitate hydratase

Deficiency of acylphosphatase

Deficiency of adenine deaminase

Deficiency of adenosinetriphosphatase1

Deficiency of adenosylhomocysteinase

Deficiency of ADP deaminase

Deficiency of alanine dehydrogenase

Deficiency of alanine-tRNA ligase

Deficiency of aldehyde dehydrogenase (NAD^+^)

Deficiency of aldehyde oxidase

Deficiency of aldehyde reductase

Deficiency of aldehyde-lyase

Deficiency of aldonolactonase

Deficiency of aldose 1-epimerase

Deficiency of alkaline phosphatase1

Deficiency of alkaline phosphomonoesterase

Deficiency of alkylhalidase

Deficiency of allantoicase

Deficiency of allantoinase

Deficiency of alpha- and beta-trypsin

Deficiency of alpha-aminoacylpeptide hydrolase

Deficiency of alpha-amylase

Deficiency of alpha-galactosidase

Deficiency of alpha-glucosidase

Deficiency of alpha-mannosidase

Deficiency of amidase

Deficiency of amidinotransferase

Deficiency of amine oxidase

Deficiency of amine oxidase (copper-containing)

Deficiency of aminoacyl-histidine dipeptidase

Deficiency of aminoacylase 1

Deficiency of aminoacyltransferase

Deficiency of aminopeptidase

Deficiency of aminotransferase2

Deficiency of ammonia-lyase

Deficiency of AMP deaminase

Deficiency of AMP nucleosidase

Deficiency of amylase

Deficiency of amylo-1,6-glucosidase

Deficiency of amylopectin 6-glucanohydrolase

Deficiency of arginine deiminase

Deficiency of argininosuccinate synthase

Deficiency of aromatic-L-amino-acid decarboxylase

Deficiency of arylesterase

Deficiency of arylsulfatase

Deficiency of aspartate 4-decarboxylase

Deficiency of aspartate carbamoyltransferase

Deficiency of aspartic proteinase

Deficiency of ATP pyrophosphatase

Deficiency of azobenzene reductase

Deficiency of benzaldehyde dehydrogenase (NADP^+^)

Deficiency of benzoylcholinesterase

Deficiency of beta-amylase

Deficiency of beta-fructofuranosidase

Deficiency of beta-galactosidase

Deficiency of beta-glucosidase

Deficiency of beta-glucuronidase

Deficiency of beta-ureidopropionase

Deficiency of betaine-aldehyde dehydrogenase

Deficiency of bisphosphoglycerate mutase

Deficiency of bisphosphoglycerate phosphatase

Deficiency of butyryl-CoA dehydrogenase

Deficiency of butyrylcholinesterase

Deficiency of carbon-carbon lyase

Deficiency of carbon-halide lyase

Deficiency of carbon-nitrogen lyase

Deficiency of carbon-oxygen lyase

Deficiency of carbon-sulfur lyase

Deficiency of carbonate dehydratase

Deficiency of carboxy-lyase

Deficiency of carboxylesterase

Deficiency of carboxylic ester hydrolase

Deficiency of carboxypeptidase A

Deficiency of carboxypeptidase B

Deficiency of carnosinase

Deficiency of catalase

Deficiency of catechol oxidase

Deficiency of cathepsin C

Deficiency of cathepsin D

Deficiency of cellulase

Deficiency of chlorophyllase

Deficiency of cholate-CoA ligase

Deficiency of cholesterol esterase

Deficiency of cholesterol oxidase

Deficiency of choline dehydrogenase

Deficiency of choline esterase I

Deficiency of choline esterase II (unspecific)

Deficiency of chymosin

Deficiency of chymotrypsin

Deficiency of chymotrypsin A and B

Deficiency of citrate(si)-synthase

Deficiency of coenzyme-A transferase

Deficiency of cysteamine dioxygenase

Deficiency of cysteine carboxypeptidase

Deficiency of cysteine proteinase

Deficiency of cysteinyl-glycine dipeptidase

Deficiency of cystine reductase (NADH)

Deficiency of cytidine deaminase

Deficiency of cytochrome-b>5< reductase

Deficiency of cytochrome-c peroxidase

Deficiency of cytosol aminopeptidase

Deficiency of D-2-hydroxy-acid dehydrogenase

Deficiency of D-amino-acid oxidase

Deficiency of D-aspartate oxidase

Deficiency of D-lactate dehydrogenase

Deficiency of dehydrogenase1

Deficiency of dehydrogluconate dehydrogenase

Deficiency of deoxyribonuclease I

Deficiency of deoxyribonuclease II

Deficiency of dextranase

Deficiency of dihydrofolate reductase

Deficiency of dihydroorotase

Deficiency of dihydrouracil dehydrogenase (NAD^+^)

Deficiency of diisopropyl-fluorophosphatase

Deficiency of dimethylallyltranstransferase

Deficiency of dimethylglycine dehydrogenase

Deficiency of dioxygenase

Deficiency of dipeptidase

Deficiency of dipeptide hydrolase

Deficiency of dipeptidylpeptide hydrolase

Deficiency of diphosphomevalonate decarboxylase

Deficiency of diphosphoric monoester hydrolase

Deficiency of endo-1,3(4)-beta-glucanase

Deficiency of endopeptidase

Deficiency of endoribonuclease

Deficiency of enolase

Deficiency of enoyl-CoA hydratase

Deficiency of enteropeptidase

Deficiency of epimerase

Deficiency of estradiol 6beta-monooxygenase

Deficiency of ether hydrolase

Deficiency of exoribonuclease

Deficiency of ferroxidase

Deficiency of formaldehyde dehydrogenase

Deficiency of formamidase

Deficiency of formate dehydrogenase

Deficiency of formate-tetrahydrofolate ligase

Deficiency of formiminotetrahydrofolate cyclodeaminase

Deficiency of formyltetrahydrofolate deformylase

Deficiency of fructose-bisphosphatase

Deficiency of fructose-bisphosphate aldolase

Deficiency of fumarate hydratase

Deficiency of fumarylacetoacetase2

Deficiency of galactonolactone dehydrogenase

Deficiency of galactose dehydrogenase

Deficiency of gentisate 1,2-dioxygenase

Deficiency of glucan 1,3-alpha-glucosidase

Deficiency of glucan 1,4-alpha-glucosidase

Deficiency of gluconate 2-dehydrogenase

Deficiency of gluconolactonase

Deficiency of glucosamine-6-phosphate isomerase

Deficiency of glucose dehydrogenase

Deficiency of glucose oxidase

Deficiency of glucose-1-phosphatase

Deficiency of glucose-6-phosphatase

Deficiency of glucose-6-phosphate dehydrogenase4

Deficiency of glucose-6-phosphate isomerase

Deficiency of glucosyltransferase 1

Deficiency of glutamate decarboxylase

Deficiency of glutamate dehydrogenase

Deficiency of glutamate-ammonia ligase

Deficiency of glutaminase

Deficiency of glutarate-CoA ligase

Deficiency of glutathione reductase (NAD(P)H)

Deficiency of glutathione synthase1

Deficiency of glutathione thiolesterase

Deficiency of glutathione-homocystine transhydrogenase

Deficiency of glyceraldehyde-3-phosphate dehydrogenase

Deficiency of glycerophosphatase

Deficiency of glycerophosphocholine phosphodiesterase

Deficiency of glycosidase

Deficiency of glycosulfatase

Deficiency of glycosyltransferase

Deficiency of GMP synthase (glutamine-hydrolysing)

Deficiency of guanine deaminase

Deficiency of halogenase

Deficiency of heparin lyase

Deficiency of hexose oxidase

Deficiency of hexosyltransferase

Deficiency of histidine ammonia-lyase

Deficiency of histidine decarboxylase

Deficiency of histidinol dehydrogenase

Deficiency of homocysteine desulfhydrase

Deficiency of hyaluronate lyase

Deficiency of hyaluronoglucosaminidase

Deficiency of hydrolase

Deficiency of hydrolyase

Deficiency of hydroxyacylglutathione hydrolase

Deficiency of hydroxymethylglutaryl-CoA hydrolase

Deficiency of hydroxymethylglutaryl-CoA lyase

Deficiency of hydroxymethylglutaryl-CoA reductase (NADPH)

Deficiency of hydroxymethylglutaryl-CoA synthase

Deficiency of imidodipeptidase

Deficiency of iminodipeptidase

Deficiency of IMP cyclohydrolase

Deficiency of IMP dehydrogenase

Deficiency of inorganic pyrophosphatase

Deficiency of inosinase

Deficiency of inosine nucleosidase

Deficiency of iodide peroxidase

Deficiency of isobutyryl-CoA dehydrogenase

Deficiency of isocitrate dehydrogenase (NAD^+^)

Deficiency of isocitrate lyase

Deficiency of isoleucine-tRNA ligase

Deficiency of isomaltase

Deficiency of isomerase

Deficiency of isopentenyl-diphosphate delta-isomerase

Deficiency of ketotetrose-phosphate aldolase

Deficiency of kynurenine 3-monooxygenase

Deficiency of L-amino-acid oxidase

Deficiency of L-arabinose dehydrogenase

Deficiency of L-asparagine amidohydrolase

Deficiency of L-gulonate dehydrogenase

Deficiency of L-lactate dehydrogenase

Deficiency of L-lactate dehydrogenase (cytochrome)

Deficiency of L-prolylglycine dipeptidase

Deficiency of L-serine ammonia-lyase

Deficiency of lactate racemase

Deficiency of lactonase

Deficiency of lactoylglutathione lyase

Deficiency of lecithinase D

Deficiency of leucine aminopeptidase

Deficiency of leucine-tRNA ligase

Deficiency of leukotriene C4 synthase

Deficiency of lichenase

Deficiency of ligase

Deficiency of limit dextrinase

Deficiency of lipophosphodiesterase II

Deficiency of long-chain fatty-acyl-CoA hydrolase

Deficiency of long-chain-fatty-acid-CoA ligase

Deficiency of lyase2

Deficiency of lysine racemase

Deficiency of lysine-tRNA ligase

Deficiency of lysolecithin acylmutase

Deficiency of lysophospholipase

Deficiency of lysozyme

Deficiency of malate dehydrogenase

Deficiency of malate dehydrogenase (decarboxylating)

Deficiency of malate dehydrogenase (oxaloacetate-decarboxylating)

Deficiency of malate oxidase

Deficiency of maleylacetoacetate isomerase

Deficiency of malonyl-CoA decarboxylase

Deficiency of mannitol dehydrogenase

Deficiency of mannose-6-phosphate isomerase

Deficiency of metallocarboxypeptidase

Deficiency of metalloproteinase

Deficiency of methenyltetrahydrofolate cyclohydrolase

Deficiency of methionine adenosyltransferase

Deficiency of methionine-tRNA ligase

Deficiency of methylaspartate mutase

Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^)

Deficiency of methylglutaconyl-CoA hydratase

Deficiency of methylmalonyl-CoA mutase2

Deficiency of methyltransferase

Deficiency of mevaldate reductase

Deficiency of mitochondrial aspartyl-tRNA synthetase

Deficiency of monodehydroascorbate reductase (NADH)

Deficiency of monooxygenase

Deficiency of mutase

Deficiency of myo-inositol oxygenase

Deficiency of N-acetyl-beta-glucosaminidase

Deficiency of N-acetylneuraminate lyase

Deficiency of N-methyl-L-amino-acid oxidase

Deficiency of NAD(P)^+^ nucleosidase

Deficiency of NAD(P)^+^ transhydrogenase

Deficiency of NAD(P)H dehydrogenase (quinone)

Deficiency of NAD^+^ nucleosidase

Deficiency of NAD^+^ synthase (glutamine-hydrolysing)

Deficiency of NADase

Deficiency of NADH dehydrogenase (ubiquinon)1

Deficiency of NADPH-ferrihemoprotein reductase

Deficiency of NAPH cytochrome-c>2< reductase

Deficiency of nicotinate dehydrogenase

Deficiency of nitrate reductase

Deficiency of nucleosidase

Deficiency of nucleoside-diphosphatase

Deficiency of nucleotidase

Deficiency of nucleotide pyrophosphatase

Deficiency of nucleotidyltransferase

Deficiency of omega peptidase

Deficiency of oxidase

Deficiency of oximinotransferase

Deficiency of oxo-acid-lyase

Deficiency of oxoglutarate dehydrogenase (lipoamide)

Deficiency of oxygenase

Deficiency of palmitoyl-CoA hydrolase

Deficiency of pancreatic elastase

Deficiency of pantothenoylcysteine decarboxylase

Deficiency of pectin methoxylase

Deficiency of pectin methylesterase

Deficiency of pectinesterase

Deficiency of pentosyltransferase

Deficiency of pepsin A

Deficiency of pepsin B

Deficiency of peptidase a

Deficiency of peptide hydrolase

Deficiency of peptidoglycan endopeptidase

Deficiency of peroxidase

Deficiency of phenylalanine 4-monooxygenase

Deficiency of phenylpyruvate tautomerase

Deficiency of phosphatase

Deficiency of phosphatidate phosphatase

Deficiency of phosphoacetylglucosamine mutase

Deficiency of phosphoadenosine-phosphosulfate reductase 2

Deficiency of phosphoadenylate 3'-nucleotidase

Deficiency of phosphoamidase

Deficiency of phosphoglucomutase

Deficiency of phosphogluconate dehydrogenase

Deficiency of phosphogluconate dehydrogenase (decarboxylating)

Deficiency of phosphoglycerate mutase

Deficiency of phosphoketolase

Deficiency of phospholipase A>2<

Deficiency of phospholipase C

Deficiency of phospholipase D

Deficiency of phosphomannomutase 2

Deficiency of phosphomonoesterase

Deficiency of phosphopantothenate-cysteine ligase

Deficiency of phosphoprotein phosphatase

Deficiency of phosphoribosylamine-glycine ligase

Deficiency of phosphoribosylaminoimidazole carboxylase

Deficiency of phosphoribosylaminoimidazole-succinocarboxamide synthase

Deficiency of phosphoribosylformylglycinamidine cyclo-ligase

Deficiency of phosphoribosylformylglycinamidine synthase

Deficiency of phosphoric diester hydrolase

Deficiency of phosphoric monoester hydrolase

Deficiency of phosphorus-oxygen lyase

Deficiency of phosphorylase phosphatase

Deficiency of phosphoserine phosphatase

Deficiency of phosphotransferase

Deficiency of plasmin

Deficiency of polygalacturonase

Deficiency of progesterone 11alpha-monooxygenase

Deficiency of prolidase

Deficiency of prolinase

Deficiency of proline dipeptidase

Deficiency of prolyl dipeptidase

Deficiency of propionyl-CoA carboxylase

Deficiency of protease

Deficiency of protocatechuate 3,4-dioxygenase

Deficiency of pyridoxamine-phosphate oxidase

Deficiency of pyrophosphotransferase

Deficiency of pyrroline-2-carboxylate reductase

Deficiency of pyrroline-5-carboxylate reductase

Deficiency of pyrroline-5-carboxylate synthase

Deficiency of pyruvate decarboxylase

Deficiency of quinate dehydrogenase

Deficiency of racemase

Deficiency of reductase

Deficiency of renin

Deficiency of retinal isomerase

Deficiency of retinyl-palmitate esterase

Deficiency of ribonuclease

Deficiency of ribose-5-phosphate isomerase

Deficiency of ribosomal cathepsin

Deficiency of ribosomal neutral proteinase

Deficiency of ribulose-phosphate 3-epimerase

Deficiency of sarcosine oxidase

Deficiency of serine carboxypeptidase

Deficiency of serine proteinase

Deficiency of serine-tRNA ligase

Deficiency of shikimate dehydrogenase

Deficiency of sialidase

Deficiency of squalene monooxygenase

Deficiency of steroid 11-beta-monooxygenase

Deficiency of steroid 17-alpha-monooxygenase

Deficiency of steroid 21-monooxygenase3

Deficiency of steroid delta-isomerase

Deficiency of succinate dehydrogenase

Deficiency of succinate-CoA ligase2

Deficiency of succinyl-CoA hydrolase

Deficiency of sulfatase

Deficiency of sulfinoalanine decarboxylase

Deficiency of sulfite reductase

Deficiency of sulfotransferase

Deficiency of sulfuric ester hydrolase

Deficiency of sulfurtransferase

Deficiency of tannase

Deficiency of thiamine pyridinylase

Deficiency of thioether hydrolase

Deficiency of thiolester hydrolase

Deficiency of threonine aldolase

Deficiency of threonine dehydratase

Deficiency of threonine-tRNA ligase

Deficiency of thrombin

Deficiency of transacylase

Deficiency of transcarbamoylase

Deficiency of transcarboxylase

Deficiency of transferase126

Deficiency of transformiminase

Deficiency of transformylase

Deficiency of triacylglycerol lipase

Deficiency of trimetaphosphatase

Deficiency of tripeptide aminopeptidase

Deficiency of triphosphoric monoester hydrolase

Deficiency of tropinesterase

Deficiency of trypsin1

Deficiency of tryptophan 2,3-dioxygenase

Deficiency of tryptophan 5-monooxygenase

Deficiency of tryptophan-tRNA ligase

Deficiency of tyraminase1

Deficiency of tyrosine decarboxylase

Deficiency of tyrosine-tRNA ligase

Deficiency of UDPglucose dehydrogenase

Deficiency of unspecific monooxygenase

Deficiency of uracil dehydrogenase

Deficiency of urate oxidase

Deficiency of urease

Deficiency of uronolactonase

Deficiency of valine-tRNA ligase

Deficiency of w-amidase

Deficiency of xanthine oxidase

Deficiency of xylan endo-1,3-beta-xylosidase

Glutamate-cysteine ligase deficiency

Homogentisate 1,2-dioxygenase deficiency

Interleukin-1 receptor-associated kinase 4 deficiency

Multiple carboxylase deficiency2

Myeloperoxidase deficiency syndrome

Phosphoenolpyruvate carboxykinase (GTP) deficiency

Porphobilinogen synthase deficiency

S-adenosylhomocysteine hydrolase deficiency

Trehalase deficiency

Triose phosphate isomerase deficiency

UDPglucose-4-epimerase deficiency2