Developmental and epileptic encephalopathy   1275631007

SNOMED CT code


SNOMED code1275631007
nameDevelopmental and epileptic encephalopathy
statusactive
date introduced2023-05-31
fully specified name(s)Developmental and epileptic encephalopathy (disorder)
synonyms
  • DEE - developmental and epileptic encephalopathy
  • Developmental and epileptic encephalopathy
attributes - group1
Finding siteBrain structure   12738006
Pathological processPathological developmental process   308490002
parents
children
  • CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation   1237417007
  • CNTNAP2-related developmental and epileptic encephalopathy   1230376005
  • Combined oxidative phosphorylation defect type 27   1172844009
  • Early infantile developmental and epileptic encephalopathy   721251000124100
  • Early infantile epileptic encephalopathy with suppression bursts   230429005
  • Early myoclonic encephalopathy   44423001
  • Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation   770431001
  • Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome   773548008
  • Epilepsy with continuous spike wave during slow-wave sleep   230439004
  • Epilepsy with myoclonic-atonic seizures   230421008
  • Epileptic encephalopathy with global cerebral demyelination   726702005
  • FASTKD2-related infantile mitochondrial encephalomyopathy   778029000
  • Folinic acid responsive seizure syndrome   717276003
  • Hyperekplexia epilepsy syndrome   785726009
  • Hypothalamic hamartoma with gelastic seizure   766932005
  • Infantile epileptic dyskinetic encephalopathy   771223000
  • KCNQ2-related epileptic encephalopathy   778001003
  • Lennox-Gastaut syndrome   230418006
  • Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003
  • Multiple congenital anomalies, hypotonia, seizures syndrome type 2   773643006
  • Multiple mitochondrial dysfunctions syndrome type 2   1208486005
  • Myoclonic encephalopathy   192845009
  • Myoclonic epilepsy in non-progressive encephalopathy   778047006
  • Neonatal epileptic encephalopathy due to glutaminase deficiency   1222662000
  • Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome   782825008
  • RNF13-related severe early-onset epileptic encephalopathy   1222659003
  • Severe myoclonic epilepsy in infancy   230437002
  • Severe neonatal onset encephalopathy with microcephaly   771303004
  • Solute carrier family 35 member A2 congenital disorder of glycosylation   771516000
  • SYNGAP1-related developmental and epileptic encephalopathy   1222656005
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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            Epilepsy   84757009
              Developmental and epileptic encephalopathy   1275631007

ancestors
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