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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
130341019 Enzymopathy, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
130342014 Enzyme disorder, NOS en Synonym (core metadata concept) Inactive Only initial character 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
819500019 Enzymopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
72011000077112 enzymopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

909 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
Carnitine palmitoyltransferase deficiency Is a True Enzymopathy Inferred relationship Some
Muscle AMP deaminase deficiency Is a True Enzymopathy Inferred relationship Some
Other deficiencies of circulating enzymes Is a False Enzymopathy Inferred relationship Some
Deficiency in enzyme complexes of mitochondrial respiratory chain 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
Anemia due to enzyme deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia 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
Drug-induced enzyme deficiency anemia Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class I variant anemia Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class III variant anemia Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
Anemia 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 anemia 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
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder) Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to NADH diaphorase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder) 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 anemia Associated etiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide-methemoglobin reductase deficiency Associated etiologic finding False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder) Associated etiologic finding False Enzymopathy Inferred relationship Some
HNSHA due to decreased adenosine deaminase activity Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class V variant anemia Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD class IV variant anemia Associated etiologic finding False Enzymopathy Inferred relationship Some
G-6-PD variant enzyme deficiency anemia Associated etiologic finding False Enzymopathy Inferred relationship Some
Propionic acidemia Is a True Enzymopathy Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency Is a False Enzymopathy Inferred relationship Some
Citrullinemia (disorder) Is a True Enzymopathy Inferred relationship Some
Dihydropyrimidinase deficiency Is a True Enzymopathy Inferred relationship Some
Carnitine acetyltransferase deficiency Is a False Enzymopathy Inferred relationship Some
Anemia due to enzyme deficiency Due to True Enzymopathy Inferred relationship Some 5
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Due to False Enzymopathy Inferred relationship Some 5
Clinical manifestation of enzyme deficiency (disorder) Due to True Enzymopathy Inferred relationship Some 1
Drug-induced enzyme deficiency anemia Due to True Enzymopathy Inferred relationship Some 6
G-6-PD class I variant anemia Due to False Enzymopathy Inferred relationship Some
G-6-PD class III variant anemia Due to False Enzymopathy Inferred relationship Some
Anemia 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
G-6-PD class II variant anemia 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 anemia Due to False Enzymopathy Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide-methemoglobin reductase deficiency Due to False Enzymopathy Inferred relationship Some
HNSHA due to decreased adenosine deaminase activity Due to True Enzymopathy Inferred relationship Some 5
G-6-PD class V variant anemia Due to False Enzymopathy Inferred relationship Some
G-6-PD class IV variant anemia Due to False Enzymopathy Inferred relationship Some
G-6-PD variant enzyme deficiency anemia Due to False Enzymopathy Inferred relationship Some
4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) Is a True Enzymopathy Inferred relationship Some
Gout secondary to enzyme defect Associated with True Enzymopathy Inferred relationship Some 2
Neonatal jaundice due to deficiency of enzyme system for bilirubin conjugation (disorder) Due to True Enzymopathy Inferred relationship Some 1
Immunodeficiency with multicarboxylase deficiency Associated with False Enzymopathy Inferred relationship Some 1
Disorder due to cytochrome p450 enzyme variant Is a False Enzymopathy Inferred relationship Some
Disorder due to N-acetyltransferase enzyme variant (disorder) Is a True Enzymopathy Inferred relationship Some
Citrin deficiency (disorder) Is a False Enzymopathy Inferred relationship Some
UGT1A1*28 polymorphism Is a False Enzymopathy Inferred relationship Some
Essential pentosuria (disorder) Is a True Enzymopathy Inferred relationship Some
Hyperandrogenism due to non-classic type of 21-hydroxylase deficiency (disorder) Is a True Enzymopathy Inferred relationship Some
Circulating enzyme deficiency Is a True Enzymopathy Inferred relationship Some
Aromatase excess syndrome Is a True Enzymopathy Inferred relationship Some
Combined pancreatic lipase and colipase 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
Anemia due to enzymopathy (disorder) Due to True Enzymopathy Inferred relationship Some 3
Phenylketonuria Is a True Enzymopathy Inferred relationship Some

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