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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 hyaluronoglucosaminidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of lichenase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glucan 1,3-alpha-glucosidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of AMP nucleosidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of NAD(P)^+^ nucleosidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of adenosylhomocysteinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of tripeptide aminopeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cysteinyl-glycine dipeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of dipeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of serine carboxypeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of carboxypeptidase A est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of carboxypeptidase B est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of thrombin est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of plasmin est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of enteropeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of pancreatic elastase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of pepsin A est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of pepsin B est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of chymosin est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of renin est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of peptidoglycan endopeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glutaminase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of w-amidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of amidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of urease est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of beta-ureidopropionase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of formyltetrahydrofolate deformylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of biotinidase est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of formamidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of dihydropyrimidinase est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of dihydroorotase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of allantoinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of arginase est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of allantoicase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of arginine deiminase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of adenine deaminase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of guanine deaminase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of adenosine deaminase est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of cytidine deaminase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of AMP deaminase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of ADP deaminase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of methenyltetrahydrofolate cyclohydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of IMP cyclohydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of inorganic pyrophosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of trimetaphosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of adenosinetriphosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of nucleoside-diphosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of acylphosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of ATP pyrophosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of nucleotide pyrophosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of fumarylacetoacetase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of diisopropyl-fluorophosphatase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphoamidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of carboxylic ester hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of thiolester hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphoric diester hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of triphosphoric monoester hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of diphosphoric monoester hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of nucleosidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of thioether hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of ether hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of peptide hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of alpha-aminoacylpeptide hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of dipeptide hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of dipeptidylpeptide hydrolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of ribonuclease est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of exoribonuclease est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of endoribonuclease est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of metallocarboxypeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cysteine carboxypeptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of omega peptidase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of serine proteinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of cysteine proteinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aspartic proteinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of metalloproteinase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of lyase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of pyruvate decarboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of malonyl-CoA decarboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aspartate 4-decarboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of glutamate decarboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphoribosylaminoimidazole carboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of histidine decarboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of tyrosine decarboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aromatic-L-amino-acid decarboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of sulfinoalanine decarboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of pantothenoylcysteine decarboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphoenolpyruvate carboxykinase (GTP) est un(e) (attribut) False Specific enzyme deficiency Inferred relationship Some
Deficiency of diphosphomevalonate decarboxylase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of ketotetrose-phosphate aldolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of threonine aldolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphoketolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of fructose-bisphosphate aldolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of isocitrate lyase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of N-acetylneuraminate lyase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA synthase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of citrate(si)-synthase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of 4-hydroxy-2-oxoglutarate aldolase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of carbonate dehydratase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of fumarate hydratase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some
Deficiency of aconitate hydratase est un(e) (attribut) True Specific enzyme deficiency Inferred relationship Some

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