Arginine:glycine amidinotransferase deficiency   702440000

SNOMED CT code


SNOMED code702440000
nameArginine:glycine amidinotransferase deficiency
statusactive
date introduced2014-07-31
fully specified name(s)Cerebral creatine deficiency syndrome 3 (disorder)
synonyms
  • Cerebral creatine deficiency syndrome 3
  • Arginine:glycine amidinotransferase deficiency
  • L-arginine:glycine amidinotransferase deficiency
  • Creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency
attributes - group1
OccurrenceCongenital   255399007
parents
  • Disorder of creatine synthesis   297226004
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of creatine synthesis   297226004
            Arginine:glycine amidinotransferase deficiency   702440000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Arginine:glycine amidinotransferase deficiency   702440000

ancestors
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