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