124237001: Deficiency of transferase (disorder)

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

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
Deficiency of transferase	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of transferase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of nicotinamide methyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of guanidinoacetate methyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of thetin-homocysteine methyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of acetylserotonin methyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of betaine-homocysteine methyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glycine hydroxymethyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of phosphoribosylglycinamide formyltransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of phosphoribosylaminoimidazolecarboxamide formyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glycine formiminotransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glycine amidinotransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of transketolase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of transaldolase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glucosamine acetyltransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glucosamine-phosphate acetyltransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of arylamine acetyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of choline acetyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of carnitine acetyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of acetyl-CoA acetyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of hydrogen-sulfide acetyltransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of thioethanolamine acetyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of dihydrolipoamide acetyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glycine acyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glutamine phenylacetyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glycerol-3-phosphate acyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of acetyl-coenzyme A acyltransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of maltose phosphorylase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of 1,4-alpha-glucan branching enzyme	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of 1,3-beta-glucan synthase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of alpha-1,4-glucan-protein synthase (UDP-forming)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of uridine phosphorylase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of thymidine phosphorylase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of AMP pyrophorylase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of hypoxanthine phosphoribosyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of uracil phosphoribosyltransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of orotate phosphoribosyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of nicotinate phosphoribosyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of nicotinamide phosphoribosyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of amidophosphoribosyltransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of aspartate aminotransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of alanine aminotransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of cysteine aminotransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of tyrosine aminotransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of leucine aminotransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of kynurenine-oxoglutarate aminotransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of 2,5-diaminovalerate aminotransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of alanine-oxo-acid aminotransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of ornithine-oxo-acid aminotransferase	Is a	False	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of asparagine-oxo-acid aminotransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glutamine-pyruvate aminotransferase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerising)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of hexokinase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glucokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of ketohexokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of fructokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of rhamnulokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy and jaundice. Patients generally have elevated plasma galactose and increased urinary excretion of galactitol. They develop cataracts during the first weeks or months of life as a result of accumulation of galactitol in the lens. Patients are otherwise healthy. Caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme. The disorder is inherited in an autosomal recessive manner.	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of mannokinase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glucosamine kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of phosphoglucokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of 6-phosphofructokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of gluconokinase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of dehydrogluconokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of sedoheptulokinase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of ribokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of ribulokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of xylulokinase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of phosphoribokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of adenosine kinase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of ribosylnicotinamide kinase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of NAD^+^ kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of dephospho-CoA kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of adenylylsulphate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of riboflavin kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of erythritol kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of triokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glycerol kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glycerate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of choline kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of pantetheine kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of pyridoxal kinase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of mevalonate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of protein kinase	Is a	False	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of phosphorylase kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of homoserine kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of pyruvate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glucose-1-phosphate phosphodismutase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of acetate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of carbamate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of phosphoglycerate kinase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of aspartate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of guanidinoacetate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of creatine kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of phosphomevalonate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of adenylate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of nucleoside-phosphate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of nucleoside-diphosphate kinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of ribose-phosphate pyrophosphokinase (disorder)	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of thiamin pyrophosphokinase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of nicotinamide-nucleotide adenylyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of FMN adenylyltransferase	Is a	True	Deficiency of transferase	Inferred relationship	Existential restriction modifier (core metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
203819010	Deficiency of transferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
727756011	Deficiency of transferase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
203819010	Deficiency of transferase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
203819010	Deficiency of transferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
727756011	Deficiency of transferase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
727756011	Deficiency of transferase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4770781000241113	déficit en transferase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4770781000241113	déficit en transferase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module