124237001: deficiëntie van transferase (aandoening)

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

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 (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of transferase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of nicotinamide methyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of guanidinoacetate methyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of thetin-homocysteine methyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of acetylserotonin methyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of betaine-homocysteine methyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glycine hydroxymethyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of phosphoribosylglycinamide formyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of phosphoribosylaminoimidazolecarboxamide formyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glycine formiminotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glycine amidinotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of transketolase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of transaldolase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glucosamine acetyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glucosamine-phosphate acetyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of arylamine acetyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of choline acetyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of carnitine acetyltransferase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of acetyl-CoA acetyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of hydrogen-sulfide acetyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of thioethanolamine acetyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of dihydrolipoamide acetyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glycine acyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glutamine phenylacetyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glycerol-3-phosphate acyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of acetyl-coenzyme A acyltransferase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of maltose phosphorylase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of 1,4-alpha-glucan branching enzyme	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of 1,3-beta-glucan synthase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of alpha-1,4-glucan-protein synthase (UDP-forming)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of uridine phosphorylase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of thymidine phosphorylase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of AMP pyrophorylase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of hypoxanthine phosphoribosyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of uracil phosphoribosyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of orotate phosphoribosyltransferase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of nicotinate phosphoribosyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of nicotinamide phosphoribosyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of amidophosphoribosyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of aspartate aminotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of alanine aminotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of cysteine aminotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of tyrosine aminotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of leucine aminotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of kynurenine-oxoglutarate aminotransferase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of 2,5-diaminovalerate aminotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of alanine-oxo-acid aminotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of ornithine-oxo-acid aminotransferase	Is a	False	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of asparagine-oxo-acid aminotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glutamine-pyruvate aminotransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of hexokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glucokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of ketohexokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of fructokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of rhamnulokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of galactokinase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of mannokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glucosamine kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of phosphoglucokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of 6-phosphofructokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of gluconokinase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of dehydrogluconokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of sedoheptulokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of ribokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of ribulokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of xylulokinase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of phosphoribokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of adenosine kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of ribosylnicotinamide kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of NAD^+^ kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of dephospho-CoA kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of adenylylsulphate kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of riboflavin kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of erythritol kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of triokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glycerol kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glycerate kinase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of choline kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of pantetheine kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of pyridoxal kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of mevalonate kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of protein kinase	Is a	False	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of phosphorylase kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of homoserine kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of pyruvate kinase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of glucose-1-phosphate phosphodismutase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of acetate kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of carbamate kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of phosphoglycerate kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of aspartate kinase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of guanidinoacetate kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of creatine kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of phosphomevalonate kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of adenylate kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of nucleoside-phosphate kinase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of nucleoside-diphosphate kinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of ribose-phosphate pyrophosphokinase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of thiamine pyrophosphokinase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of nicotinamide-nucleotide adenylyltransferase	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some
Deficiency of riboflavin mononucleotide adenylyltransferase (disorder)	Is a	True	Deficiency of transferase (disorder)	Inferred relationship	Some

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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
6862271000146117	transferasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9444191000146113	deficiëntie van transferase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11343561000146110	deficiëntie van transferase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)