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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
694481000077119 enzymopathie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
72011000077112 enzymopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
819500019 Enzymopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


911 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Enzymopathy est un(e) (attribut) trouble métabolique true Inferred relationship Some
Enzymopathy localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Lesch-Nyhan syndrome est un(e) (attribut) False Enzymopathy Inferred relationship Some
Muscle D-lactate dehydrogenase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Lactase deficiency in diseases other than of the small intestine est un(e) (attribut) True Enzymopathy Inferred relationship Some
Anemia due to enzymopathy (disorder) Due to True Enzymopathy Inferred relationship Some 3
Phenylketonuria (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Hereditary methemoglobinemia, enzymatic type est un(e) (attribut) False Enzymopathy Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Specific enzyme deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Deficiency in enzyme complexes of mitochondrial respiratory chain est un(e) (attribut) True Enzymopathy Inferred relationship Some
Methylcrotonyl-CoA carboxylase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Propionyl-CoA carboxylase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Hepatic fructokinase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Adenylosuccinate lyase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Biotin-(propionyl-CoA-carboxylase) ligase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Citrullinemia est un(e) (attribut) False Enzymopathy Inferred relationship Some
acidurie orotique héréditaire est un(e) (attribut) True Enzymopathy Inferred relationship Some
Anemia due to enzyme deficiency Associated aetiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to aldolase A deficiency Associated aetiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Associated aetiologic finding False Enzymopathy Inferred relationship Some
Iodotyrosine deiodination defect est un(e) (attribut) True Enzymopathy Inferred relationship Some
Primary hyperoxaluria est un(e) (attribut) True Enzymopathy Inferred relationship Some
Drug-induced enzyme deficiency anemia Associated aetiologic finding False Enzymopathy Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency class I variant anemia (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency class III variant anemia (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
Anaemia due to pentose phosphate pathway defect Associated aetiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency class II variant anemia (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to phosphofructokinase deficiency Associated aetiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to phosphoglycerate kinase deficiency Associated aetiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to diphosphoglycerate mutase deficiency Associated aetiologic finding False Enzymopathy Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency anemia Associated aetiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to NADH-methemoglobin reductase deficiency Associated aetiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder) Associated aetiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to decreased adenosine deaminase activity Associated aetiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class V variant anemia Associated aetiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class IV variant anemia Associated aetiologic finding False Enzymopathy Inferred relationship Some
G-6-PD variant enzyme deficiency anemia Associated aetiologic finding False Enzymopathy Inferred relationship Some
Fructose-1,6-bisphosphate aldolase B deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Adult hypophosphatasia est un(e) (attribut) True Enzymopathy Inferred relationship Some
Beta-aminoisobutyric aciduria (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Glutathione S-transferase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Intestinal disaccharidase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Arginase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Disorder of lysosomal enzyme est un(e) (attribut) True Enzymopathy Inferred relationship Some
Cystathionine beta-synthase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
déficit en 5-oxoprolinase (trouble) est un(e) (attribut) True Enzymopathy Inferred relationship Some
cétoacidurie à chaines ramifiées est un(e) (attribut) True Enzymopathy Inferred relationship Some
Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Fructose-biphosphatase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
syndrome de Crigler-Najjar (trouble) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Methylmalonyl-CoA mutase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) False Enzymopathy Inferred relationship Some
Childhood hypophosphatasia est un(e) (attribut) True Enzymopathy Inferred relationship Some
Alpha-1-antitrypsin deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Deficiency of steryl-sulphatase est un(e) (attribut) True Enzymopathy Inferred relationship Some
déficit en glutamate-cystéine ligase (trouble) est un(e) (attribut) False Enzymopathy Inferred relationship Some
Nonpersistence of intestinal lactase est un(e) (attribut) True Enzymopathy Inferred relationship Some
Propionyl-CoA carboxylase deficiency (disorder) est un(e) (attribut) False Enzymopathy Inferred relationship Some
Glutathione synthase deficiency with 5-oxoprolinuria est un(e) (attribut) True Enzymopathy Inferred relationship Some
4-Hydroxyphenylpyruvate dioxygenase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Gyrate atrophy of the choroid and retina est un(e) (attribut) False Enzymopathy Inferred relationship Some
Sulphite oxidase deficiency syndrome est un(e) (attribut) True Enzymopathy Inferred relationship Some
Argininosuccinate lyase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
5,10-Methylenetetrahydrofolate reductase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Cholesterol monooxygenase (side-chain cleaving) deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Adenosine deaminase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Sepiapterin reductase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Propionic acidemia est un(e) (attribut) True Enzymopathy Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency (disorder) est un(e) (attribut) False Enzymopathy Inferred relationship Some
Citrullinemia (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Hypervalinaemia est un(e) (attribut) True Enzymopathy Inferred relationship Some
Corticosterone 18-monooxygenase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Tyrosinaemia type 2 est un(e) (attribut) True Enzymopathy Inferred relationship Some
17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Deficiency of acetyl-coenzyme A carboxylase (disorder) est un(e) (attribut) False Enzymopathy Inferred relationship Some
Phosphatidylcholine-sterol acyltransferase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Succinate-semialdehyde dehydrogenase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Testosterone 17-beta-dehydrogenase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Steroid 21-monooxygenase deficiency, simple virilising type est un(e) (attribut) False Enzymopathy Inferred relationship Some
Congenital lactase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
xanthinurie héréditaire (trouble) est un(e) (attribut) True Enzymopathy Inferred relationship Some
hypophosphatasie infantile (trouble) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Muscle L-lactate dehydrogenase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Essential benign pentosuria (disorder) est un(e) (attribut) False Enzymopathy Inferred relationship Some
Intestinal enteropeptidase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Hyperammonaemia, type III est un(e) (attribut) True Enzymopathy Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Hepatic methionine adenosyltransferase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
déficit en dihydroptéridine réductase (trouble) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Glutamate formiminotransferase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Acquired lactase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Purine-nucleoside phosphorylase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some

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