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Developmental and epileptic encephalopathy 1275631007 SNOMED CT code SNOMED code 1275631007 name Developmental and epileptic encephalopathy status active date introduced 2023-05-31 fully specified name(s) Developmental and epileptic encephalopathy (disorder) synonyms DEE - developmental and epileptic encephalopathy Developmental and epileptic encephalopathy attributes - group1 Finding site Brain structure 12738006 Pathological process Pathological 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 sorted most to least specific
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