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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
72011000077112 enzymopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

931 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
Congenital pancreatic enterokinase deficiency Is a False Enzymopathy Inferred relationship Some
Acatalasia 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
Hereditary methemoglobinemia, enzymatic 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
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Is a True Enzymopathy Inferred relationship Some
Adenylosuccinate lyase deficiency Is a False Enzymopathy Inferred relationship Some
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency 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 (disorder) 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
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit. 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
Phosphatidylcholine-sterol acyltransferase deficiency 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 virilizing 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
Essential benign pentosuria 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 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
Congenital hyperammonemia, 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 (disorder) 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
A rare disorder of pyrimidine metabolism with characteristics of a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil. 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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