Developmental and epileptic encephalopathy

Developmental and epileptic encephalopathy (disorder)

active

Code	`1275631007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20230531

Synonyms

DEE - developmental and epileptic encephalopathy

Parents (2)

84757009Epilepsy disorder
700364009Neurodevelopmental disorder disorder

Children (35)

1237417007CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation disorder
773230003CDKL5 developmental and epileptic encephalopathy disorder
1230376005CNTNAP2-related developmental and epileptic encephalopathy disorder
1172844009Combined oxidative phosphorylation defect type 27 disorder
1344866009Developmental and epileptic encephalopathy with spike-and-wave activation in sleep disorder
230437002Dravet syndrome disorder
1343692008Early-infantile developmental and epileptic encephalopathy disorder
773548008Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome disorder
784345005Epilepsy of infancy with migrating focal seizures disorder
230439004Epilepsy with continuous spike wave during slow-wave sleep disorder
230421008Epilepsy with myoclonic-atonic seizures disorder
726702005Epileptic encephalopathy with global cerebral demyelination disorder
778029000FASTKD2-related infantile mitochondrial encephalomyopathy disorder
770431001GRIN2A developmental and epileptic encephalopathy disorder
766932005Gelastic seizures with hypothalamic hamartoma disorder
785726009Hyperekplexia epilepsy syndrome disorder
771223000Infantile epileptic dyskinetic encephalopathy disorder
773421009Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression disorder
778001003KCNQ2 developmental and epileptic encephalopathy disorder
230418006Lennox-Gastaut syndrome disorder
1197587003Lethal neonatal spasticity, epileptic encephalopathy syndrome disorder
773643006Multiple congenital anomalies, hypotonia, seizures syndrome type 2 disorder
1208486005Multiple mitochondrial dysfunctions syndrome type 2 disorder
778047006Myoclonic epilepsy in non-progressive encephalopathy disorder
1222662000Neonatal epileptic encephalopathy due to glutaminase deficiency disorder
724576005P5PD developmental and epileptic encephalopathy disorder
782825008Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome disorder
734434007Pyridoxine-dependent developmental and epileptic encephalopathy disorder
1222659003RNF13-related severe early-onset epileptic encephalopathy disorder
765170001SCN8A developmental and epileptic encephalopathy disorder
768666006STXBP1 developmental and epileptic encephalopathy disorder
1222656005SYNGAP1-related developmental and epileptic encephalopathy disorder
771303004Severe neonatal onset encephalopathy with microcephaly disorder
771516000Solute carrier family 35 member A2 congenital disorder of glycosylation disorder
725163002X-linked spasticity, intellectual disability, epilepsy syndrome disorder