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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
Purine-nucleoside phosphorylase deficiency Is a True Enzymopathy Inferred relationship Some
Urocanate hydratase deficiency Is a True Enzymopathy Inferred relationship Some
Proline dehydrogenase deficiency 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
Congenital hyperammonaemia, type I Is a False Enzymopathy Inferred relationship Some
Glycine dehydrogenase (decarboxylating) deficiency Is a True Enzymopathy Inferred relationship Some
5-aminolevulinic acid dehydratase deficiency Is a False Enzymopathy Inferred relationship Some
Ethanolaminosis Is a True Enzymopathy Inferred relationship Some
Dihydropyrimidinase deficiency Is a True Enzymopathy Inferred relationship Some
Sarcosine dehydrogenase deficiency Is a True Enzymopathy Inferred relationship Some
Carnitine acetyltransferase deficiency Is a False Enzymopathy Inferred relationship Some
Anaemia due to enzyme deficiency Due to True Enzymopathy Inferred relationship Some 5
Hereditary nonspherocytic haemolytic anaemia due to aldolase A deficiency Due to False Enzymopathy Inferred relationship Some 5
Cytochrome-c oxidase deficiency Is a False Enzymopathy Inferred relationship Some
Aminomethyltransferase deficiency Is a True Enzymopathy Inferred relationship Some
Clinical manifestation of enzyme deficiency Due to True Enzymopathy Inferred relationship Some 1
Drug-induced enzyme deficiency anaemia Due to True Enzymopathy Inferred relationship Some 6
G-6-PD class I variant anaemia Due to False Enzymopathy Inferred relationship Some
G-6-PD class III variant anaemia Due to False Enzymopathy Inferred relationship Some
Anaemia due to pentose phosphate pathway defect Due to True Enzymopathy Inferred relationship Some 5
HNSHA due to pyrimidine-5'-nucleotidase deficiency Due to True Enzymopathy Inferred relationship Some 5
Histidine ammonia-lyase deficiency Is a False Enzymopathy Inferred relationship Some
G-6-PD class II variant anaemia Due to False Enzymopathy Inferred relationship Some
HNSHA due to phosphofructokinase deficiency Due to True Enzymopathy Inferred relationship Some 5
HNSHA due to NADH diaphorase deficiency Due to True Enzymopathy Inferred relationship Some 6
HNSHA due to glucose phosphate isomerase deficiency Due to True Enzymopathy Inferred relationship Some 6
Glucose-6-phosphate dehydrogenase deficiency anaemia Due to False Enzymopathy Inferred relationship Some
HNSHA due to NADH-methaemoglobin reductase deficiency Due to False Enzymopathy Inferred relationship Some
Cystathionine gamma-lyase deficiency Is a False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity Due to True Enzymopathy Inferred relationship Some 5
G-6-PD class V variant anaemia Due to False Enzymopathy Inferred relationship Some
G-6-PD class IV variant anaemia Due to False Enzymopathy Inferred relationship Some
G-6-PD variant enzyme deficiency anaemia Due to 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
Congenital pancreatic enterokinase 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
4-Hydroxyphenylpyruvate dioxygenase deficiency Is a True Enzymopathy Inferred relationship Some
Classical phenylketonuria Is a False Enzymopathy Inferred relationship Some
Gout secondary to enzyme defect Associated with True Enzymopathy Inferred relationship Some 2
Dihydrouracil dehydrogenase (NADP^+^) deficiency Is a True Enzymopathy Inferred relationship Some
Neonatal jaundice due to deficiency of enzyme system for bilirubin conjugation Due to True Enzymopathy Inferred relationship Some 1
Immunodeficiency with multicarboxylase deficiency Associated with False Enzymopathy Inferred relationship Some 1
Gamma-glutamyl transpeptidase 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
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
Muscle AMP deaminase deficiency Is a True Enzymopathy Inferred relationship Some
Disorder due to cytochrome p450 enzyme variant Is a False Enzymopathy Inferred relationship Some
Disorder due to N-acetyltransferase enzyme variant Is a True Enzymopathy Inferred relationship Some
Citrin deficiency Is a False Enzymopathy Inferred relationship Some
UGT1A1*28 polymorphism Is a False Enzymopathy Inferred relationship Some
Other deficiencies of circulating enzymes Is a False Enzymopathy Inferred relationship Some
Essential pentosuria Is a True Enzymopathy Inferred relationship Some
Hyperandrogenism due to non-classic 21-hydroxylase deficiency Is a True Enzymopathy Inferred relationship Some
Circulating enzyme deficiency Is a True Enzymopathy Inferred relationship Some
Acatalasia Is a False Enzymopathy Inferred relationship Some
Aromatase excess syndrome Is a True Enzymopathy Inferred relationship Some
Anaemia due to enzyme deficiency Is a False Enzymopathy Inferred relationship Some
Combined pancreatic lipase and colipase deficiency Is a True Enzymopathy Inferred relationship Some
Hyper-beta-carnosinaemia Is a True Enzymopathy Inferred relationship Some
Ferrochelatase deficiency Is a True Enzymopathy Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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