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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
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

34 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental and epileptic encephalopathy (disorder) Is a Neurodevelopmental disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Developmental and epileptic encephalopathy (disorder) Is a Epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Developmental and epileptic encephalopathy (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Developmental and epileptic encephalopathy (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Myoclonic encephalopathy Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early infantile epileptic encephalopathy with suppression bursts Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy with continuous spike wave during slow-wave sleep Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy with myoclonic-atonic seizures (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early myoclonic encephalopathy Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lennox-Gastaut syndrome (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epileptic encephalopathy with global cerebral demyelination (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonic epilepsy in non-progressive encephalopathy Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 27 (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple mitochondrial dysfunctions syndrome type 2 (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood. Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
SYNGAP1-related developmental and epileptic encephalopathy Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypothalamic hamartoma with gelastic seizure Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe neonatal onset encephalopathy with microcephaly Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Is a True Developmental and epileptic encephalopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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