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78548001: Enzymopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
130340018 Enzymopathy en Synonym Active Entire term case insensitive SNOMED CT core module
130341019 Enzymopathy, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
130342014 Enzyme disorder, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
130343016 Enzyme disorder en Synonym Active Entire term case insensitive SNOMED CT core module
819500019 Enzymopathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

911 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Enzymopathy Is a Metabolic disease true Inferred relationship Existential restriction modifier
Enzymopathy Finding site Body system structure false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Lesch-Nyhan syndrome Is a False Enzymopathy Inferred relationship Existential restriction modifier
Congenital pancreatic enterokinase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Acatalasia Is a False Enzymopathy Inferred relationship Existential restriction modifier
Anemia due to enzyme deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Hyper-beta-carnosinemia Is a True Enzymopathy Inferred relationship Existential restriction modifier
Ferrochelatase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Muscle D-lactate dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Hereditary methemoglobinemia, enzymatic type Is a False Enzymopathy Inferred relationship Existential restriction modifier
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Specific enzyme deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Methylcrotonyl-coenzyme A carboxylase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Adenylosuccinate lyase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Citrullinemia Is a False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary orotic aciduria Is a True Enzymopathy Inferred relationship Existential restriction modifier
Iodotyrosine deiodination defect Is a True Enzymopathy Inferred relationship Existential restriction modifier
Primary hyperoxaluria Is a True Enzymopathy Inferred relationship Existential restriction modifier
Fructose-1,6-bisphosphate aldolase B deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Adult hypophosphatasia Is a True Enzymopathy Inferred relationship Existential restriction modifier
Beta-aminoisobutyric aciduria Is a True Enzymopathy Inferred relationship Existential restriction modifier
Glutathione S-transferase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Intestinal disaccharidase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Arginase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Disorder of lysosomal enzyme Is a True Enzymopathy Inferred relationship Existential restriction modifier
Cystathionine beta-synthase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
5-Oxoprolinase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Maple syrup urine disease Is a True Enzymopathy Inferred relationship Existential restriction modifier
Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria Is a True Enzymopathy Inferred relationship Existential restriction modifier
Fructose-biphosphatase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Crigler-Najjar syndrome Is a True Enzymopathy Inferred relationship Existential restriction modifier
Methylmalonyl-CoA mutase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Glycogen storage disease Is a False Enzymopathy Inferred relationship Existential restriction modifier
Childhood hypophosphatasia Is a True Enzymopathy Inferred relationship Existential restriction modifier
Alpha-1-antitrypsin deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Acetyl-CoA: acyltransferase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Disorder involving deficiency of steryl-sulfatase (EC 3.1.6.2) Is a True Enzymopathy Inferred relationship Existential restriction modifier
Glutamate-cysteine ligase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Nonpersistence of intestinal lactase Is a True Enzymopathy Inferred relationship Existential restriction modifier
Propionyl-CoA carboxylase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Glutathione synthase deficiency with 5-oxoprolinuria Is a True Enzymopathy Inferred relationship Existential restriction modifier
4-Hydroxyphenylpyruvate dioxygenase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Gyrate atrophy of the choroid AND/OR retina (disorder) Is a False Enzymopathy Inferred relationship Existential restriction modifier
Sulfite oxidase deficiency syndrome Is a True Enzymopathy Inferred relationship Existential restriction modifier
Argininosuccinate lyase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
5,10-Methylenetetrahydrofolate reductase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Adenosine deaminase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Sepiapterin reductase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Hypervalinemia Is a True Enzymopathy Inferred relationship Existential restriction modifier
Corticosterone 18-monooxygenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Hypertyrosinemia, Richner-Hanhart type Is a True Enzymopathy Inferred relationship Existential restriction modifier
17 alpha-Hydroxyprogesterone aldolase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Deficiency of acetyl-coenzyme A carboxylase Is a False Enzymopathy Inferred relationship Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Succinate-semialdehyde dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Testosterone 17-beta-dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Steroid 21-monooxygenase deficiency, simple virilizing type Is a False Enzymopathy Inferred relationship Existential restriction modifier
Congenital lactase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
3 beta-Hydroxysteroid dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Hereditary xanthinuria Is a True Enzymopathy Inferred relationship Existential restriction modifier
Infantile hypophosphatasia Is a True Enzymopathy Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a True Enzymopathy Inferred relationship Existential restriction modifier
Muscle L-lactate dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Essential benign pentosuria Is a False Enzymopathy Inferred relationship Existential restriction modifier
Intestinal enteropeptidase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Hyperammonemia, type III Is a True Enzymopathy Inferred relationship Existential restriction modifier
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Hepatic methionine adenosyltransferase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Dihydropteridine reductase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Glutamate formiminotransferase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Acquired lactase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Urocanate hydratase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Proline dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Homocarnosinase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Muscle phosphoglycerate mutase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Congenital hyperammonemia, type I Is a False Enzymopathy Inferred relationship Existential restriction modifier
Glycine dehydrogenase (decarboxylating) deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Porphobilinogen synthase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Ethanolaminosis Is a True Enzymopathy Inferred relationship Existential restriction modifier
Sarcosine dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Cytochrome-c oxidase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Aminomethyltransferase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Histidine ammonia-lyase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Cystathionine gamma-lyase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Pancreatic colipase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Proline dipeptidase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Hydroxymethylglutaryl-CoA lyase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Kynureninase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Classical phenylketonuria Is a False Enzymopathy Inferred relationship Existential restriction modifier
Dihydropyrimidine dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Gamma-glutamyl transpeptidase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Ornithine carbamoyltransferase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Pancreatic alpha-amylase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Acyl-coenzyme A dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Trehalase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Pyruvate carboxylase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Isovaleryl-coenzyme A dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Biotinidase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Tetrahydrofolate methyltransferase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Carnitine palmitoyltransferase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier

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