Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation   770431001

SNOMED CT code


SNOMED code770431001
nameEarly-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
statusactive
date introduced2019-01-31
fully specified name(s)Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder)
synonyms
  • Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
  • Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation
  • Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group1
Finding siteBrain structure   12738006
Pathological processPathological developmental process   308490002
OccurrenceChildhood   255398004
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Developmental and epileptic encephalopathy   1275631007
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation   770431001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation   770431001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          Developmental and epileptic encephalopathy   1275631007
            Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation   770431001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation   770431001

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
            Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation   770431001

ancestors
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