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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
208206015 Specific enzyme deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
4790101000241113 déficit enzymatique spécifique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

635 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 (core metadata concept)
Specific enzyme deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Deficiency of pectinesterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of pectin methoxylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of lactonase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of aldonolactonase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of gluconolactonase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acetyl-CoA deacylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acetyl-CoA acylase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acetyl-CoA hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of long-chain fatty-acyl-CoA hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of palmitoyl-CoA hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphomonoesterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glycerophosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of alkaline phosphomonoesterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of alkaline phosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of lipophosphodiesterase II Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of lecithinase D Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phospholipase D Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of sulfatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of arylsulphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of sucrase-isomaltase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of isomaltase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of inosinase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of inosine nucleosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of NAD^+^ nucleosidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of NADase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of leucine aminopeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
déficit en cytosol aminopeptidase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of peptidase a Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of aminopeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of carnosinase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of aminoacyl-histidine dipeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of cytosol non-specific dipeptidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
déficit en imidodipeptidase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
déficit en L-prolylglycine dipeptidase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
déficit en prolyl dipeptidase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of Xaa-Pro dipeptidase (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
déficit en iminodipeptidase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
déficit en proline dipeptidase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of cathepsin C Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of dipeptidyl peptidase I Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of dipeptidyl-amino-peptidase I Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of chymotrypsin A and B Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of chymotrypsin Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of alpha- and beta-trypsin Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of trypsin (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of ribosomal neutral proteinase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of ribosomal cathepsin (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
déficit en A-ase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of asparaginase (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
déficit en halogenase Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of alkylhalidase (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphatase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphoric monoester hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of sulphuric ester hydrolase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of amine oxidase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of tyraminase (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acetylesterase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Biotinidase deficiency (disorder) Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Triose phosphate isomerase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Homogentisate 1,2-dioxygenase deficiency (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Adenylosuccinate lyase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Arginase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Cystathionine beta-synthase deficiency (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Glutamate-cysteine ligase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Argininosuccinate lyase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Adenosine deaminase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acetyl-coenzyme A carboxylase (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoenolpyruvate carboxykinase (GTP) deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Porphobilinogen synthase deficiency (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Cystathionine gamma-lyase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Trehalase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Uridine diphosphate glucose-4-epimerase deficiency (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Myeloperoxidase deficiency syndrome (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Adult G6PD deficiency of leukocytes syndrome Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome p450 enzyme deficiency (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of isobutyryl-CoA dehydrogenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of succinate-coenzyme A ligase (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of 2-methylbutyryl-CoA dehydrogenase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
21-hydroxylase deficiency Is a False Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Interleukin-1 receptor-associated kinase 4 deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of aminoacylase 1 (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphomannomutase 2 Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glucosyltransferase 1 Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of leukotriene C4 synthase Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of cathepsin D Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of S-adenosylhomocysteine hydrolase (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute episodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death. Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Coenzyme Q10 deficiency (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of 24-hydroxylase (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Multiple carboxylase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Methylmalonate semialdehyde dehydrogenase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of methylmalonyl-coenzyme A epimerase (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Fumarase deficiency Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of sterol carrier protein X (disorder) Is a True Specific enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)

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