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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 pectinesterase Is a True Specific enzyme deficiency Inferred relationship Some
déficit en pectin methoxylase Is a False 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
déficit en long-chain fatty-acyl-CoA hydrolase Is a False Specific enzyme deficiency Inferred relationship Some
Deficiency of palmitoyl-coenzyme A hydrolase (disorder) Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphomonoesterase (disorder) 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
déficit en lipophosphodiesterase II Is a False Specific enzyme deficiency Inferred relationship Some
déficit en lecithinase D Is a False 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
déficit en inosinase Is a False 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
déficit en cytosol aminopeptidase Is a False Specific enzyme deficiency Inferred relationship Some
Deficiency of peptidase a (disorder) 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 cytosol non-specific dipeptidase Is a True Specific enzyme deficiency Inferred relationship Some
déficit en imidodipeptidase Is a False Specific enzyme deficiency Inferred relationship Some
déficit en L-prolylglycine dipeptidase Is a False Specific enzyme deficiency Inferred relationship Some
déficit en prolyl dipeptidase Is a False Specific enzyme deficiency Inferred relationship Some
Deficiency of Xaa-Pro dipeptidase Is a True Specific enzyme deficiency Inferred relationship Some
déficit en iminodipeptidase Is a False Specific enzyme deficiency Inferred relationship Some
déficit en proline dipeptidase Is a False 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
déficit en A-ase Is a False Specific enzyme deficiency Inferred relationship Some
Deficiency of asparaginase (disorder) Is a True Specific enzyme deficiency Inferred relationship Some
déficit en halogenase Is a False Specific enzyme deficiency Inferred relationship Some
Deficiency of alkylhalidase (disorder) 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 sulphuric 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
Deficiency of acetylesterase (disorder) 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
Deficiency of acetyl-coenzyme A carboxylase (disorder) Is a True Specific enzyme deficiency Inferred relationship Some
Phosphoenolpyruvate carboxykinase (GTP) deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Porphobilinogen synthase 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
Galactose 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 (disorder) 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-CoA 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 (disorder) Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of phosphomannomutase 2 (disorder) Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of glucosyltransferase 1 Is a True Specific enzyme deficiency Inferred relationship Some
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. Is a True Specific enzyme deficiency Inferred relationship Some
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 Some
Deficiency of cathepsin D (disorder) Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of S-adenosylhomocysteine hydrolase (disorder) Is a True Specific enzyme deficiency Inferred relationship Some
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 Some
Coenzyme Q10 deficiency (disorder) Is a False Specific enzyme deficiency Inferred relationship Some
Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of 24-hydroxylase Is a True Specific enzyme deficiency Inferred relationship Some
A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. Is a True Specific enzyme deficiency Inferred relationship Some
Methylmalonate semialdehyde dehydrogenase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of methylmalonyl-coenzyme A epimerase (disorder) Is a True Specific enzyme deficiency Inferred relationship Some
Fumarate hydratase deficiency Is a True Specific enzyme deficiency Inferred relationship Some
Deficiency of sterol carrier protein X (disorder) Is a True Specific enzyme deficiency Inferred relationship Some

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