SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Enzymopathy  78548001

Specific enzyme deficiency  129456006

Deficiency of transferase   124237001

SNOMED CT code


SNOMED code124237001
nameDeficiency of transferase
statusactive
date introduced2002-01-31
fully specified name(s)Deficiency of transferase (disorder)
synonymsDeficiency of transferase
parentsSpecific enzyme deficiency   129456006
children
  • Deficiency of 1,3-beta-glucan synthase   124269005
  • Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase   124268002
  • Deficiency of 1,4-alpha-glucan branching enzyme   124267007
  • Deficiency of 2,5-diaminovalerate aminotransferase   124290002
  • Deficiency of 3-mercaptopyruvate sulfurtransferase   124361005
  • Deficiency of 3-oxoacid CoA-transferase   124366000
  • Deficiency of 3-oxoadipate CoA-transferase   124367009
  • Deficiency of 6-phosphofructokinase   124306003
  • Deficiency of acetate kinase   124333004
  • Deficiency of acetyl-CoA acetyltransferase   124258007
  • Deficiency of acetyl-CoA acyltransferase   124265004
  • Deficiency of acetylserotonin methyltransferase   124241002
  • Deficiency of adenosine kinase   124314009
  • Deficiency of adenylate kinase   124340003
  • Deficiency of adenylylsulfate kinase   124318007
  • Deficiency of alanine aminotransferase   124285000
  • Deficiency of alanine-oxo-acid aminotransferase   124291003
  • Deficiency of alcohol sulfotransferase   124363008
  • Deficiency of alpha-1,4-glucan-protein synthase (UDP-forming)   124270006
  • Deficiency of amidophosphoribosyltransferase   124280005
  • Deficiency of AMP pyrophorylase   124274002
  • Deficiency of aryl sulfotransferase   124362003
  • Deficiency of arylamine acetyltransferase   124255005
  • Deficiency of asparagine-oxo-acid aminotransferase   124293000
  • Deficiency of aspartate aminotransferase   124284001
  • Deficiency of aspartate kinase   124336007
  • Deficiency of betaine-homocysteine methyltransferase   124242009
  • Deficiency of butyrate-acetoacetate CoA-transferase   124368004
  • Deficiency of carbamate kinase   124334005
  • Deficiency of carnitine acetyltransferase   124257002
  • Deficiency of choline acetyltransferase   124256006
  • Deficiency of choline kinase   124324001
  • Deficiency of choline-phosphate cytidylyltransferase   124356008
  • Deficiency of cholinephosphotransferase   124359001
  • Deficiency of creatine kinase   124338008
  • Deficiency of cysteine aminotransferase   124286004
  • Deficiency of dehydrogluconokinase   124308002
  • Deficiency of dephospho-CoA kinase   124317002
  • Deficiency of dihydrolipoamide acetyltransferase   124261008
  • Deficiency of DNA nucleotidylexotransferase   124357004
  • Deficiency of DNA-directed DNA polymerase   124350002
  • Deficiency of DNA-directed RNA polymerase   124349002
  • Deficiency of erythritol kinase   124320005
  • Deficiency of ethanolamine-phosphate cytidylyltransferase   124355007
  • Deficiency of ethanolaminephosphotransferase   124358009
  • Deficiency of FMN adenylyltransferase   124346009
  • Deficiency of fructokinase   124300009
  • Deficiency of galactokinase   124302001
  • Deficiency of glucokinase   124298009
  • Deficiency of gluconokinase   124307007
  • Deficiency of glucosamine acetyltransferase   124253003
  • Deficiency of glucosamine kinase   124304000
  • Deficiency of glucosamine-phosphate acetyltransferase   124254009
  • Deficiency of glucose-1-phosphate phosphodismutase   124332009
  • Deficiency of glutamine phenylacetyltransferase   124263006
  • Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing)   124295007
  • Deficiency of glutamine-pyruvate aminotransferase   124294006
  • Deficiency of glycerate kinase   124323007
  • Deficiency of glycerol kinase   124322002
  • Deficiency of glycerol-3-phosphate acyltransferase   124264000
  • Deficiency of glycine acyltransferase   124262001
  • Deficiency of glycine amidinotransferase   124250000
  • Deficiency of glycine formiminotransferase   124246007
  • Deficiency of glycine hydroxymethyltransferase   124243004
  • Deficiency of guanidinoacetate kinase   124337003
  • Deficiency of guanidinoacetate methyltransferase   124239003
  • Deficiency of hexokinase   124297004
  • Deficiency of homoserine kinase   124330001
  • Deficiency of hydrogen-sulfide acetyltransferase   124259004
  • Deficiency of hypoxanthine phosphoribosyltransferase   124275001
  • Deficiency of ketohexokinase   124299001
  • Deficiency of kynurenine-oxoglutarate aminotransferase   124289006
  • Deficiency of leucine aminotransferase   124288003
  • Deficiency of malonate CoA-transferase   124365001
  • Deficiency of maltose phosphorylase   124266003
  • Deficiency of mannokinase   124303006
  • Deficiency of mevalonate kinase   124327008
  • Deficiency of NAD^+^ kinase   124316006
  • Deficiency of nicotinamide methyltransferase   124238006
  • Deficiency of nicotinamide phosphoribosyltransferase   124279007
  • Deficiency of nicotinamide-nucleotide adenylyltransferase   124345008
  • Deficiency of nicotinate phosphoribosyltransferase   124278004
  • Deficiency of nucleoside-diphosphate kinase   124342006
  • Deficiency of nucleoside-phosphate kinase   124341004
  • Deficiency of ornithine-oxo-acid aminotransferase   124292005  removed: 2004-07-31
  • Deficiency of orotate phosphoribosyltransferase   124277009
  • Deficiency of oxalate CoA-transferase   124364002
  • Deficiency of pantetheine kinase   124325000
  • Deficiency of pantetheine-phosphate adenylyltransferase   124347000
  • Deficiency of phosphoglucokinase   124305004
  • Deficiency of phosphoglycerate kinase   124335006
  • Deficiency of phosphomevalonate kinase   124339000
  • Deficiency of phosphoribokinase   124313003
  • Deficiency of phosphoribosylaminoimidazolecarboxamide formyltransferase   124245006
  • Deficiency of phosphoribosylglycinamide formyltransferase   124244005
  • Deficiency of phosphorylase kinase   124329006
  • Deficiency of polyribonucleotide nucleotidyltransferase   124351003
  • Deficiency of protein kinase   124328003  removed: 2003-01-31
  • Deficiency of protein kinase   387814004
  • Deficiency of pyridoxal kinase   124326004
  • Deficiency of pyruvate kinase   124331002
  • Deficiency of rhamnulokinase   124301008
  • Deficiency of riboflavin kinase   124319004
  • Deficiency of ribokinase   124310000
  • Deficiency of ribose-phosphate pyrophosphokinase   124343001
  • Deficiency of ribosylnicotinamide kinase   124315005
  • Deficiency of ribulokinase   124311001
  • Deficiency of sedoheptulokinase   124309005
  • Deficiency of sulfate adenylyltransferase (ADP)   124348005
  • Deficiency of thetin-homocysteine methyltransferase   124240001
  • Deficiency of thiamine pyrophosphokinase   124344007
  • Deficiency of thioethanolamine acetyltransferase   124260009
  • Deficiency of thiosulfate sulfurtransferase   124360006
  • Deficiency of thymidine phosphorylase   124273008
  • Deficiency of transaldolase   124252008
  • Deficiency of transketolase   124251001
  • Deficiency of triokinase   124321009
  • Deficiency of tyrosine aminotransferase   124287008
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase   124354006
  • Deficiency of uracil phosphoribosyltransferase   124276000
  • Deficiency of uridine phosphorylase   124272003
  • Deficiency of UTP-glucose-1-phosphate uridylyltransferase   124352005
  • Deficiency of UTP-hexose-1-phosphate uridylyltransferase   398664009
  • Deficiency of xylulokinase   124312008
  • Deficiency of Zeta-chain associated protein kinase 70   716716001
  • Ornithine aminotransferase deficiency   276426004
  • Thymidine kinase 2 deficiency   1187535000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Deficiency of transferase   124237001

ancestors
sorted most to least specific
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