STXBP1 encephalopathy with epilepsy   768666006

SNOMED CT code


SNOMED code768666006
nameSTXBP1 encephalopathy with epilepsy
statusactive
date introduced2018-07-31
fully specified name(s)Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)
synonyms
  • STXBP1-related early-onset encephalopathy
  • STXBP1 encephalopathy with epilepsy
  • STXBP1 (syntaxin binding protein 1) epileptic encephalopathy
  • Syntaxin binding protein 1 encephalopathy with epilepsy
  • Early infantile epileptic encephalopathy 4
  • STXBP1-related epileptic encephalopathy
attributes - group2
Finding siteBrain structure   12738006
Pathological processPathological developmental process   308490002
attributes - group1
OccurrenceInfancy   3658006
Finding siteCerebrum   83678007
parentsEarly infantile epileptic encephalopathy with suppression bursts   230429005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          Developmental and epileptic encephalopathy   1275631007
            Early infantile epileptic encephalopathy with suppression bursts   230429005
              STXBP1 encephalopathy with epilepsy   768666006

ancestors
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