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78548001: Enzymopathy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
130340018 Enzymopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
130343016 Enzyme disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819500019 Enzymopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2009871000005119 Enzymopati da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul

941 descendants. Search Descendants:

Expanded Value Set

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

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This concept is not in any reference sets

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