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

636 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Specific enzyme deficiency Is a Enzymopathy true Inferred relationship Existential restriction modifier
Specific enzyme deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Deficiency of hyaluronoglucosaminidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of lichenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of glucan 1,3-alpha-glucosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of adenosine monophosphate nucleosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of nicotinamide adenine dinucleotide phosphate ^+^ nucleosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of adenosylhomocysteinase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of tripeptide aminopeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of cysteinyl-glycine dipeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of dipeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of serine carboxypeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of carboxypeptidase A Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of carboxypeptidase B Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of thrombin Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of plasmin Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of enteropeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of pancreatic elastase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of pepsin A Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of pepsin B Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of chymosin Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of renin Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of peptidoglycan endopeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of glutaminase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of w-amidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of amidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of urease Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of beta-ureidopropionase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of formyltetrahydrofolate deformylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of biotinidase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of formamidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of dihydropyrimidinase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of dihydroorotase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of allantoinase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of arginase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of allantoicase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of arginine deiminase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of adenine deaminase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of guanine deaminase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of adenosine deaminase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of cytidine deaminase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of adenosine monophosphate deaminase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of adenosine diphosphate deaminase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of methenyltetrahydrofolate cyclohydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of inosine monophosphate cyclohydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of inorganic pyrophosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of trimetaphosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of adenosinetriphosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of nucleoside-diphosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of acylphosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of adenosine triphosphate pyrophosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of nucleotide pyrophosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of fumarylacetoacetase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of diisopropyl-fluorophosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphoamidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of carboxylic ester hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of thiolester hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphoric diester hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of triphosphoric monoester hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of diphosphoric monoester hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of nucleosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of thioether hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of ether hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of peptide hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of alpha-aminoacylpeptide hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of dipeptide hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of dipeptidylpeptide hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of ribonuclease Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of exoribonuclease Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of endoribonuclease Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of metallocarboxypeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of cysteine carboxypeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of omega peptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of serine proteinase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of cysteine proteinase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of aspartic proteinase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of metalloproteinase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of lyase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of pyruvate decarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of malonyl-coenzyme A decarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of aspartate 4-decarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of glutamate decarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphoribosylaminoimidazole carboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of histidine decarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of tyrosine decarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of aromatic-L-amino-acid decarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of sulfinoalanine decarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of pantothenoylcysteine decarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphoenolpyruvate carboxykinase (GTP) Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of diphosphomevalonate decarboxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of ketotetrose-phosphate aldolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of threonine aldolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of phosphoketolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of fructose-bisphosphate aldolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of isocitrate lyase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of N-acetylneuraminate lyase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of hydroxymethylglutaryl-CoA lyase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of hydroxymethylglutaryl-coenzyme A synthase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of citrate(si)-synthase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of 4-hydroxy-2-oxoglutarate aldolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of carbonate dehydratase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of fumarate hydratase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier
Deficiency of aconitate hydratase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier

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