FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
130340018 Enzymopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
72011000077112 enzymopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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

Page 1 of 2 End

This concept is not in any reference sets

Back to Start