Pyridoxine-dependent epilepsy   734434007

SNOMED CT code


SNOMED code734434007
namePyridoxine-dependent epilepsy
statusactive
date introduced2018-01-31
fully specified name(s)Pyridoxine-dependent epilepsy (disorder)
synonyms
  • Pyridoxine-dependent epilepsy
  • Antiquitin deficiency
  • Vitamin B6-dependent seizures
attributes - group3
Finding siteBrain structure   12738006
attributes - group4
OccurrenceCongenital   255399007
Finding siteEndocrine structure   113331007
attributes - group5
OccurrenceCongenital   255399007
Finding siteCentral nervous system structure   21483005
parents
  • Inherited metabolic disorder of nervous system   128190004
  • Disorder of neurometabolic regulation   16279005
  • Disorder of gamma aminobutyric acid metabolism   16909721000119103
  • Hereditary disorder of endocrine system   363104002
  • Epilepsy   84757009
  • 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
            Pyridoxine-dependent epilepsy   734434007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of neurometabolic regulation   16279005
          Pyridoxine-dependent epilepsy   734434007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of amino acid metabolism   44779003
            Disorder of amino acid and organic acid metabolism   237911005
              Disorder of beta and omega amino acid metabolism   237940008
                Disorder of gamma aminobutyric acid metabolism   16909721000119103
                  Pyridoxine-dependent epilepsy   734434007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Pyridoxine-dependent epilepsy   734434007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            Epilepsy   84757009
              Pyridoxine-dependent epilepsy   734434007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Pyridoxine-dependent epilepsy   734434007

ancestors
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