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129456006: Specific enzyme deficiency (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
208206015 Specific enzyme deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
733589015 Specific enzyme deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


636 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
Deficiency of pectinesterase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of pectin methoxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of lactonase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aldonolactonase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of gluconolactonase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of acetyl-coenzyme A deacylase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of acetyl-coenzyme A acylase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of acetyl-CoA hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of long-chain fatty-acyl-coenzyme A hydrolase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of palmitoyl-coenzyme A hydrolase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphomonoesterase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glycerophosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of alkaline phosphomonoesterase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of alkaline phosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of lipophosphodiesterase II est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of lecithinase D est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phospholipase D est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of sulfatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of arylsulfatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of sucrase-isomaltase est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of isomaltase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of inosinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of inosine nucleosidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of nicotinamide adenine dinucleotide ^+^ nucleosidase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of nicotinamide adenine dinucleotidase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of leucine aminopeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cytosol aminopeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of peptidase a est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aminopeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of carnosinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aminoacyl-histidine dipeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of acetylesterase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of prolinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of imidodipeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of L-prolylglycine dipeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of prolyl dipeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of prolidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of iminodipeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of proline dipeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cathepsin C est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of dipeptidyl peptidase I est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of dipeptidyl-amino-peptidase I est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of chymotrypsin A and B est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of chymotrypsin est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of alpha- and beta-trypsin est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of trypsin est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of ribosomal neutral proteinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of ribosomal cathepsin est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of A-ase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of L-asparagine amidohydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of halogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of alkylhalidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphoric monoester hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of sulphuric ester hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of amine oxidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of tyraminase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Biotinidase deficiency est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Triose phosphate isomerase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Homogentisate 1,2-dioxygenase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Adenylosuccinate lyase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Arginase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Cystathionine beta-synthase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
déficit en glutamate-cystéine ligase (trouble) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Argininosuccinate lyase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Adenosine deaminase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of acetyl-coenzyme A carboxylase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Phosphoenolpyruvate carboxykinase deficiency (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Porphobilinogen synthase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Cystathionine gamma-lyase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Trehalase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
UDPglucose-4-epimerase deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Myeloperoxidase deficiency syndrome est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Adult G6PD deficiency of leukocytes syndrome est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Cytochrome p450 enzyme deficiency (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of isobutyryl-CoA dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of succinate-CoA ligase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 2-methylbutyryl-CoA dehydrogenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
21-hydroxylase deficiency (disorder) est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Interleukin-1 receptor-associated kinase 4 deficiency est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aminoacylase 1 (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphomannomutase 2 (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glucosyltransferase 1 est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of leukotriene C4 synthase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of dimethylglycine dehydrogenase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cathepsin D (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of S-adenosylhomocysteine hydrolase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Coenzyme Q10 deficiency (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of amylopectin 6-glucanohydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of limit dextrinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some

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