FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

78548001: Enzymopathy (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
130340018 Enzymopathy en Synonym Active Case insensitive SNOMED CT core
130343016 Enzyme disorder en Synonym Active Case insensitive SNOMED CT core
819500019 Enzymopathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

911 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
Muscle D-lactate dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Some
Lactase deficiency in diseases other than of the small intestine Is a True Enzymopathy Inferred relationship Some
Anaemia due to enzymopathy Due to True Enzymopathy Inferred relationship Some 3
Phenylketonuria Is a True Enzymopathy Inferred relationship Some
Hereditary methaemoglobinaemia, 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
Deficiency in enzyme complexes of mitochondrial respiratory chain Is a True Enzymopathy Inferred relationship Some
Methylcrotonyl-CoA carboxylase deficiency Is a True Enzymopathy Inferred relationship Some
Propionyl-CoA carboxylase deficiency Is a False Enzymopathy Inferred relationship Some
Essential benign fructosuria Is a True Enzymopathy Inferred relationship Some
Adenylosuccinate lyase deficiency Is a False Enzymopathy Inferred relationship Some
Biotin-(propionyl-CoA-carboxylase) ligase deficiency Is a False Enzymopathy Inferred relationship Some
Citrullinaemia Is a False Enzymopathy Inferred relationship Some
Hereditary orotic aciduria Is a True Enzymopathy Inferred relationship Some
Anaemia due to enzyme deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic haemolytic anaemia due to aldolase A deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
Iodotyrosine deiodination defect Is a True Enzymopathy Inferred relationship Some
Primary hyperoxaluria Is a True Enzymopathy Inferred relationship Some
Drug-induced enzyme deficiency anaemia Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class I variant anaemia Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class III variant anaemia Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
Anaemia due to pentose phosphate pathway defect Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class II variant anaemia Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to phosphofructokinase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to hexokinase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to triosephosphate isomerase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to NADH diaphorase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to glutathione reductase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to glucose phosphate isomerase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to phosphoglycerate kinase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to diphosphoglycerate mutase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency anaemia Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to NADH-methaemoglobin reductase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA (hereditary nonspherocytic haemolytic anaemia) due to pyruvate kinase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class V variant anaemia Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class IV variant anaemia Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD variant enzyme deficiency anaemia Associated etiologic finding False Enzymopathy Inferred relationship Some
Hereditary fructose intolerance Is a True Enzymopathy Inferred relationship Some
Adult hypophosphatasia Is a True Enzymopathy Inferred relationship Some
Beta-aminoisobutyric aciduria 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-1,6-bisphosphatase 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 retina 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
Propionic acidaemia Is a True Enzymopathy Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency Is a False Enzymopathy Inferred relationship Some
Citrullinaemia Is a True Enzymopathy Inferred relationship Some
Hypervalinaemia Is a True Enzymopathy Inferred relationship Some
Corticosterone 18-monooxygenase deficiency Is a True Enzymopathy Inferred relationship Some
Hypertyrosinaemia, Richner-Hanhart type 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
Essential benign pentosuria Is a False Enzymopathy Inferred relationship Some
Intestinal enteropeptidase deficiency Is a True Enzymopathy Inferred relationship Some
Hyperammonaemia, 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

Page 1 of 2 End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start