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

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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
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