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124237001: 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:

Id Description Lang Type Status Case? Module Reference Sets
203819010 Deficiency of transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Concept inactivation indicator reference set: Limited component (foundation metadata concept)
727756011 Deficiency of transferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
970451000052113 transferasbrist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

141 descendants. Search Descendants:

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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This concept is not in any reference sets

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