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1275631007: Developmental and epileptic encephalopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5224367016 DEE - developmental and epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5224368014 Developmental and epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5224369018 Developmental and epileptic encephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5224365012 A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5224366013 A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying aetiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

33 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental and epileptic encephalopathy Is a Neurodevelopmental disorder true Inferred relationship Some
Developmental and epileptic encephalopathy Is a Epilepsy true Inferred relationship Some
Developmental and epileptic encephalopathy Finding site Brain structure true Inferred relationship Some 1
Developmental and epileptic encephalopathy Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Myoclonic encephalopathy Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Early infantile epileptic encephalopathy with suppression bursts Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Epilepsy with continuous spike wave during slow-wave sleep Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Epilepsy with myoclonic-atonic seizures (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Severe myoclonic epilepsy in infancy Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Early myoclonic encephalopathy Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Lennox-Gastaut syndrome Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Myoclonic epilepsy in non-progressive encephalopathy Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 27 Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 2 (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Neonatal epileptic encephalopathy due to glutaminase deficiency Is a True Developmental and epileptic encephalopathy Inferred relationship Some
CNTNAP2-related developmental and epileptic encephalopathy Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Hypothalamic hamartoma with gelastic seizure Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Folinic acid responsive seizure syndrome (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly (disorder) Is a True Developmental and epileptic encephalopathy Inferred relationship Some

This concept is not in any reference sets

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