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129456006: Specific enzyme deficiency (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
208206015 Specific enzyme deficiency en Synonym Active Case insensitive SNOMED CT core
733589015 Specific enzyme deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

637 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Specific enzyme deficiency Is a Enzymopathy true Inferred relationship Some
Specific enzyme deficiency Finding site Body system structure false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Deficiency of pectinesterase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of pectin methoxylase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of lactonase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of aldonolactonase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of gluconolactonase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of acetyl-CoA deacylase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of acetyl-CoA acylase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of acetyl-CoA hydrolase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of long-chain fatty-acyl-CoA hydrolase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of palmitoyl-CoA hydrolase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphomonoesterase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of glycerophosphatase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of alkaline phosphomonoesterase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of alkaline phosphatase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of lipophosphodiesterase II Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of lecithinase D Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of phospholipase D Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of sulfatase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of arylsulfatase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of sucrase-isomaltase Is a False Specific enzyme deficiency Inferred relationship Some
Deficiency of isomaltase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of inosinase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of inosine nucleosidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of NAD^+^ nucleosidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of NADase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of leucine aminopeptidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of cytosol aminopeptidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of peptidase a Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of aminopeptidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of carnosinase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of aminoacyl-histidine dipeptidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of acetylesterase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of prolinase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of imidodipeptidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of L-prolylglycine dipeptidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of prolyl dipeptidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of prolidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of iminodipeptidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of proline dipeptidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of cathepsin C Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of dipeptidyl peptidase I Is a False Specific enzyme deficiency Inferred relationship Some
Deficiency of dipeptidyl-amino-peptidase I Is a False Specific enzyme deficiency Inferred relationship Some
Deficiency of chymotrypsin A and B Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of chymotrypsin Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of alpha- and beta-trypsin Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of trypsin Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of ribosomal neutral proteinase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of ribosomal cathepsin Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of A-ase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of L-asparagine amidohydrolase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of halogenase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of alkylhalidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphatase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphoric monoester hydrolase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of sulfuric ester hydrolase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of amine oxidase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of tyraminase Is a True Specific enzyme deficiency Inferred relationship Some
Biotinidase deficiency Is a False Specific enzyme deficiency Inferred relationship Some
Triose phosphate isomerase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Homogentisate 1,2-dioxygenase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Adenylosuccinate lyase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Arginase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Cystathionine beta-synthase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Glutamate-cysteine ligase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Argininosuccinate lyase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Adenosine deaminase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Acetyl-CoA carboxylase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Phosphoenolpyruvate carboxykinase (GTP) deficiency Is a True Specific enzyme deficiency Inferred relationship Some
5-aminolevulinic acid dehydratase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Cystathionine gamma-lyase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Trehalase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
UDPglucose-4-epimerase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Myeloperoxidase deficiency syndrome Is a True Specific enzyme deficiency Inferred relationship Some
Adult G6PD deficiency of leucocytes syndrome Is a True Specific enzyme deficiency Inferred relationship Some
Cytochrome p450 enzyme deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of isobutyryl-CoA dehydrogenase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of succinate-coenzyme A ligase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of 2-methylbutyryl-CoA dehydrogenase Is a True Specific enzyme deficiency Inferred relationship Some
21-hydroxylase deficiency Is a False Specific enzyme deficiency Inferred relationship Some
Interleukin-1 receptor-associated kinase 4 deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of aminoacylase 1 Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphomannomutase 2 Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of glucosyltransferase 1 Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of leukotriene C4 synthase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of dimethylglycine dehydrogenase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of cathepsin D Is a True Specific enzyme deficiency Inferred relationship Some
S-adenosylhomocysteine hydrolase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
HMG-CoA synthase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Coenzyme Q10 deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of mitochondrial aspartyl-tRNA synthetase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of amylopectin 6-glucanohydrolase Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of limit dextrinase Is a True Specific enzyme deficiency Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

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