KCNQ2-related epileptic encephalopathy   778001003

SNOMED CT code


SNOMED code778001003
nameKCNQ2-related epileptic encephalopathy
statusactive
date introduced2019-01-31
fully specified name(s)Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder)
synonyms
  • KCNQ2-related neonatal epileptic encephalopathy
  • KCNQ2-NEE - potassium voltage-gated channel subfamily Q member 2-related neonatal epileptic encephalopathy
  • KCNQ2-related epileptic encephalopathy
  • Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy
attributes - group1
OccurrenceNeonatal   255407002
Finding siteBrain structure   12738006
Pathological processPathological developmental process   308490002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Developmental and epileptic encephalopathy   1275631007
  • Neonatal disease   22925008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              KCNQ2-related epileptic encephalopathy   778001003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          Developmental and epileptic encephalopathy   1275631007
            KCNQ2-related epileptic encephalopathy   778001003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of neonate   118188004
      Neonatal disease   22925008
        KCNQ2-related epileptic encephalopathy   778001003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          KCNQ2-related epileptic encephalopathy   778001003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            KCNQ2-related epileptic encephalopathy   778001003

ancestors
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