129456006: Specific enzyme deficiency (disorder)

SNOMED CT Concept\Clinical finding\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency

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

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 pectinesterase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of pectin methoxylase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of lactonase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of aldonolactonase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of gluconolactonase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of acetyl-coenzyme A deacylase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of acetyl-coenzyme A acylase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of acetyl-CoA hydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of long-chain fatty-acyl-coenzyme A hydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of palmitoyl-coenzyme A hydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphomonoesterase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of glycerophosphatase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of alkaline phosphomonoesterase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of alkaline phosphatase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of lipophosphodiesterase II	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of lecithinase D	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phospholipase D	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of sulfatase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of arylsulfatase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of sucrase-isomaltase	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of isomaltase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of inosinase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of inosine nucleosidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of nicotinamide adenine dinucleotide ^+^ nucleosidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of nicotinamide adenine dinucleotidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of leucine aminopeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of cytosol aminopeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of peptidase a	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of aminopeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of carnosinase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of aminoacyl-histidine dipeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of prolinase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of imidodipeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of L-prolylglycine dipeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of prolyl dipeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of prolidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of iminodipeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of proline dipeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of cathepsin C	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of dipeptidyl peptidase I	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of dipeptidyl-amino-peptidase I	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of chymotrypsin A and B	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of chymotrypsin	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of alpha- and beta-trypsin	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of trypsin	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of ribosomal neutral proteinase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of ribosomal cathepsin	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of A-ase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of L-asparagine amidohydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of halogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of alkylhalidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphatase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphoric monoester hydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of sulfuric ester hydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of amine oxidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of tyraminase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of acetylesterase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Biotinidase deficiency	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Triose phosphate isomerase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Homogentisate 1,2-dioxygenase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Adenylosuccinate lyase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Arginase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Cystathionine beta-synthase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Glutamate-cysteine ligase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Argininosuccinate lyase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Adenosine deaminase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of acetyl-coenzyme A carboxylase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Phosphoenolpyruvate carboxykinase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Porphobilinogen synthase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Cystathionine gamma-lyase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Trehalase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Uridine diphosphate glucose-4-epimerase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Myeloperoxidase deficiency syndrome	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Adult glucose-6-phosphate dehydrogenase deficiency of leukocytes syndrome	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Cytochrome p450 enzyme deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of isobutyryl-coenzyme A dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of succinate-coenzyme A ligase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
21-hydroxylase deficiency	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Interleukin-1 receptor-associated kinase 4 deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of aminoacylase 1	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of phosphomannomutase 2	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of glucosyltransferase 1	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of leukotriene C4 synthase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of dimethylglycine dehydrogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of cathepsin D	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of S-adenosylhomocysteine hydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Coenzyme Q10 deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Deficiency of 24-hydroxylase	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Multiple carboxylase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier
Cyclin-dependent kinase-like 5 deficiency	Is a	False	Specific enzyme deficiency	Inferred relationship	Existential restriction modifier

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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