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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 Reference Sets
130340018 Enzymopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
130343016 Enzyme disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
819500019 Enzymopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
937031000052113 enzymopati sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

883 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 True Enzymopathy Inferred relationship Some
akatalasemi 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
ärftlig methemoglobinemi, enzymatisk typ 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
biotinligasberoende brist på propionyl-CoA-karboxylas 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-Aminoisobutyricaciduria 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 True 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
Acetyl-CoA: carboxylase deficiency Is a False Enzymopathy Inferred relationship Some
Phosphatidylcholine-sterol acyltransferase deficiency Is a True Enzymopathy Inferred relationship Some
Succinate-semialdehyde dehydrogenase deficiency 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 True Enzymopathy Inferred relationship Some
Infantile hypophosphatasia Is a True Enzymopathy Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a True Enzymopathy Inferred relationship Some
Muscle L-lactate dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Some
essentiell 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
medfödd hyperammonemi typ 1 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 True Enzymopathy Inferred relationship Some
Dihydrouracil dehydrogenase (NADP^+^) deficiency Is a True Enzymopathy Inferred relationship Some
gamma-Glutamyltransferase 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
alpha, alpha-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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