78548001: Enzymopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy

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

Descriptions:

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 (disorder)	Is a	True	Enzymopathy	Inferred relationship	Some
An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively.	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 (disorder)	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
An inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and in some cases intellectual deficit. Skin lesions occur in 80% of cases, ocular involvement in 75% of cases and neurologic findings and some degree of intellectual deficit in up to 60% of cases. Onset is variable but the ocular symptoms (redness, photophobia, excessive tearing and pain) usually develop in the first year of life. Cutaneous manifestations usually begin after the first year of life but may develop at the same time as the ocular symptoms. Caused by mutations in the TAT gene (16q22.1) encoding tyrosine aminotransferase (TAT). The elevated levels of tyrosine caused by TAT deficiency appear to result in deposition of tyrosine crystals leading to an inflammatory response and the oculocutaneous findings. Transmitted as an autosomal recessive trait.	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 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
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	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
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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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)	Danish module (core metadata concept)