GM3 synthase deficiency   722762005

SNOMED CT code


SNOMED code722762005
nameGM3 synthase deficiency
statusactive
date introduced2017-01-31
fully specified name(s)Ganglioside GM3 synthase deficiency (disorder)
synonyms
  • GM3 synthase deficiency
  • Ganglioside GM3 synthase deficiency
  • Amish infantile epilepsy syndrome
  • Infantile-onset symptomatic epilepsy syndrome
attributes - group2
OccurrenceCongenital   255399007
Finding siteBrain structure   12738006
parents
  • Inherited metabolic disorder of nervous system   128190004
  • Seizure disorder   128613002
  • Disorder of lipid storage and metabolism   238017009
  • 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
          Inherited metabolic disorder of nervous system   128190004
            GM3 synthase deficiency   722762005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            GM3 synthase deficiency   722762005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid storage and metabolism   238017009
            GM3 synthase deficiency   722762005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              GM3 synthase deficiency   722762005

ancestors
sorted most to least specific
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