Metabolic disease
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Enzymopathy (disorder)
Enzymopathy
Enzyme disorder
enzymopathie
enzymdefect
Id78548001
StatusPrimitive
PALGA thesaurus simple reference set for pathology
ICD-10 complex map reference set
TargetE88.9
RuleTRUE
AdviceALWAYS E88.9 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE
CorrelationSNOMED CT source code to target map code correlation not specified
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17 alpha-Hydroxyprogesterone aldolase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
4-Hydroxyphenylpyruvate dioxygenase deficiency4
5,10-Methylenetetrahydrofolate reductase deficiency
5-Oxoprolinase deficiency
Acquired lactase deficiency
Acyl-CoA dehydrogenase deficiency6
Adult hypophosphatasia
Alpha-1-antitrypsin deficiency
Aminomethyltransferase deficiency
Aromatase excess syndrome
Beta-aminoisobutyric aciduria
Beta-aminoisobutyric aciduria
Carnitine palmitoyltransferase deficiency2
Childhood hypophosphatasia
Cholesterol monooxygenase (side-chain cleaving) deficiency
Circulating enzyme deficiency
Citrullinemia5
Citrullinemia5
Combined pancreatic lipase and colipase deficiency
Congenital lactase deficiency
Congenital lactase deficiency
Congenital pancreatic enterokinase deficiency
Corticosterone 18-monooxygenase deficiency
Crigler-Najjar syndrome2
Deficiency in enzyme complexes of mitochondrial respiratory chain11
Deficiency of steryl-sulfatase3
Dihydropteridine reductase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidine dehydrogenase deficiency
Disorder due to N-acetyltransferase enzyme variant2
Disorder of lysosomal enzyme14
Ehlers-Danlos syndrome, procollagen proteinase deficient
Essential benign fructosuria
Essential benign fructosuria
Essential pentosuria
Ethanolaminosis
Ferrochelatase deficiency2
Fructose-biphosphatase deficiency
Gamma-glutamyl transpeptidase deficiency
Glutamate formiminotransferase deficiency
Glutathione S-transferase deficiency
Glutathione synthase deficiency with 5-oxoprolinuria
Glycine dehydrogenase (decarboxylating) deficiency
Hepatic methionine adenosyltransferase deficiency
Hereditary fructosuria
Hereditary fructosuria
Hereditary orotic aciduria2
Hereditary xanthinuria4
Homocarnosinase deficiency
Hyper-beta-carnosinemia
Hyperammonemia, type III
Hyperandrogenism due to non-classic 21-hydroxylase deficiency
Hypervalinemia
Infantile hypophosphatasia
Intestinal disaccharidase deficiency2
Intestinal enteropeptidase deficiency
Iodotyrosine deiodination defect
Isovaleryl-CoA dehydrogenase deficiency
Kynureninase deficiency
Lactase deficiency in diseases other than of the small intestine
Maple syrup urine disease7
Methylcrotonyl-CoA carboxylase deficiency
Methylene THF reductase deficiency AND homocystinuria
Muscle AMP deaminase deficiency
Muscle AMP deaminase deficiency
Muscle D-lactate dehydrogenase deficiency
Muscle L-lactate dehydrogenase deficiency
Muscle phosphoglycerate mutase deficiency
Nonpersistence of intestinal lactase
Ornithine carbamoyltransferase deficiency
Pancreatic alpha-amylase deficiency
Pancreatic colipase deficiency
Phenylketonuria2
Phosphatidylcholine-sterol acyltransferase deficiency
Primary hyperoxaluria3
Proline dehydrogenase deficiency
Propionic acidemia4
Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency
Pyruvate carboxylase deficiency
Sarcosine dehydrogenase deficiency
Sepiapterin reductase deficiency
Specific enzyme deficiency474
Succinate-semialdehyde dehydrogenase deficiency
Sulfite oxidase deficiency syndrome
Testosterone 17-beta-dehydrogenase deficiency
Tetrahydrofolate methyltransferase deficiency
Tyrosinemia type 2
Urocanate hydratase deficiency