SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Enzymopathy  78548001

Specific enzyme deficiency  129456006

Deficiency of transferase  124237001

Deficiency of hypoxanthine phosphoribosyltransferase   124275001

SNOMED CT code


SNOMED code124275001
nameDeficiency of hypoxanthine phosphoribosyltransferase
statusactive
date introduced2002-01-31
fully specified name(s)Deficiency of hypoxanthine phosphoribosyltransferase (disorder)
synonyms
  • Deficiency of hypoxanthine-guanine phosphoribosyltransferase
  • Deficiency of guanine phosphoribosyltransferase
  • Deficiency of IMP pyrophosphorylase
  • Deficiency of hypoxanthine phosphoribosyltransferase
parentsDeficiency of transferase   124237001
children
  • Lesch-Nyhan syndrome   10406007
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency   238007004
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
              Deficiency of hypoxanthine phosphoribosyltransferase   124275001

ancestors
sorted most to least specific
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