129456006: Specific enzyme deficiency (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Deficiency of pectin methoxylase	Is a	True	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 (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of long-chain fatty-acyl-CoA hydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of palmitoyl-CoA hydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of phosphomonoesterase	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 (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of lipophosphodiesterase II	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of lecithinase D	Is a	True	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
Deficiency of inosinase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of inosine nucleosidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of nicotinamide adenine dinucleotide ^+^ nucleosidase (disorder)	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
Deficiency of cytosol aminopeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of peptidase a	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 (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of prolinase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of imidodipeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of L-prolylglycine dipeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of prolyl dipeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of prolidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of iminodipeptidase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of proline dipeptidase	Is a	True	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
Deficiency of A-ase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of L-asparagine amidohydrolase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of halogenase	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of alkylhalidase	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 (disorder)	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 leukocytes 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
Deficiency of leukotriene C4 synthase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Deficiency of dimethylglycine dehydrogenase (disorder)	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
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)	Is a	True	Specific enzyme deficiency	Inferred relationship	Some
Coenzyme Q10 deficiency (disorder)	Is a	True	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
Multiple carboxylase deficiency	Is a	True	Specific enzyme deficiency	Inferred relationship	Some

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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
5817421000172114	déficit enzymatique spécifique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5029561000172118	deficiëntie van specifiek enzym	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)