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78548001: Enzymopathy (disorder)

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

Descriptions:

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

911 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
Enzymopathy Finding site Body system structure false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Carnitine palmitoyltransferase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Muscle adenosine monophosphate deaminase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Other deficiencies of circulating enzymes Is a False Enzymopathy Inferred relationship Existential restriction modifier
Deficiency in enzyme complexes of mitochondrial respiratory chain Is a True Enzymopathy Inferred relationship Existential restriction modifier
Propionyl-CoA carboxylase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Hepatic fructokinase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Anemia due to enzyme deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Drug-induced enzyme deficiency anemia Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase deficiency class I variant anemia Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase deficiency class III variant anemia Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Anemia due to pentose phosphate pathway defect Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase deficiency class II variant anemia Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to phosphoglycerate kinase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase deficiency anemia Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide-methemoglobin reductase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase deficiency class V variant anemia Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase deficiency class IV variant anemia Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia Associated etiologic finding False Enzymopathy Inferred relationship Existential restriction modifier
Propionic acidemia Is a True Enzymopathy Inferred relationship Existential restriction modifier
Acetyl-CoA: acyltransferase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Citrullinemia Is a True Enzymopathy Inferred relationship Existential restriction modifier
Dihydropyrimidinase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Carnitine acetyltransferase deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
Anemia due to enzyme deficiency Due to True Enzymopathy Inferred relationship Existential restriction modifier 5
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Due to False Enzymopathy Inferred relationship Existential restriction modifier 5
Clinical manifestation of enzyme deficiency Due to True Enzymopathy Inferred relationship Existential restriction modifier 1
Drug-induced enzyme deficiency anemia Due to True Enzymopathy Inferred relationship Existential restriction modifier 6
Glucose-6-phosphate dehydrogenase deficiency class I variant anemia Due to False Enzymopathy Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase deficiency class III variant anemia Due to False Enzymopathy Inferred relationship Existential restriction modifier
Anemia due to pentose phosphate pathway defect Due to True Enzymopathy Inferred relationship Existential restriction modifier 5
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency Due to True Enzymopathy Inferred relationship Existential restriction modifier 5
Glucose-6-phosphate dehydrogenase deficiency class II variant anemia Due to False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency Due to True Enzymopathy Inferred relationship Existential restriction modifier 5
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency Due to True Enzymopathy Inferred relationship Existential restriction modifier 6
Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency Due to True Enzymopathy Inferred relationship Existential restriction modifier 6
Glucose-6-phosphate dehydrogenase deficiency anemia Due to False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide-methemoglobin reductase deficiency Due to False Enzymopathy Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity Due to True Enzymopathy Inferred relationship Existential restriction modifier 5
Glucose-6-phosphate dehydrogenase deficiency class V variant anemia Due to False Enzymopathy Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase deficiency class IV variant anemia Due to False Enzymopathy Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia Due to False Enzymopathy Inferred relationship Existential restriction modifier
4-Hydroxyphenylpyruvate dioxygenase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Gout secondary to enzyme defect Associated with True Enzymopathy Inferred relationship Existential restriction modifier 2
Neonatal jaundice due to deficiency of enzyme system for bilirubin conjugation Due to True Enzymopathy Inferred relationship Existential restriction modifier 1
Immunodeficiency with multicarboxylase deficiency Associated with False Enzymopathy Inferred relationship Existential restriction modifier 1
Disorder due to cytochrome p450 enzyme variant Is a False Enzymopathy Inferred relationship Existential restriction modifier
Disorder due to N-acetyltransferase enzyme variant Is a True Enzymopathy Inferred relationship Existential restriction modifier
Citrin deficiency Is a False Enzymopathy Inferred relationship Existential restriction modifier
UGT1A1*28 polymorphism Is a False Enzymopathy Inferred relationship Existential restriction modifier
Essential pentosuria Is a True Enzymopathy Inferred relationship Existential restriction modifier
Hyperandrogenism due to non-classic type of 21-hydroxylase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Circulating enzyme deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Aromatase excess syndrome Is a True Enzymopathy Inferred relationship Existential restriction modifier
Combined pancreatic lipase and colipase deficiency Is a True Enzymopathy Inferred relationship Existential restriction modifier
Lactase deficiency in diseases other than of the small intestine Is a True Enzymopathy Inferred relationship Existential restriction modifier
Anemia due to enzymopathy Due to True Enzymopathy Inferred relationship Existential restriction modifier 3
Phenylketonuria Is a True Enzymopathy Inferred relationship Existential restriction modifier
Other deficiencies of circulating enzymes Is a False Enzymopathy Inferred relationship Existential restriction modifier

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