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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
4790101000241113 déficit enzymatique spécifique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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

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