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230429005: Early infantile epileptic encephalopathy with suppression bursts (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
345301010 Early infantile epileptic encephalopathy with suppression bursts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
345302015 Ohtahara syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
618235012 Early infantile epileptic encephalopathy with suppression bursts (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4959241000241114 syndrome d'Ohtahara fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415301001000115 Enzephalopathie, epileptische, frühinfantile Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Early infantile epileptic encephalopathy with suppression bursts Is a épilepsie symptomatique false Inferred relationship Some
Early infantile epileptic encephalopathy with suppression bursts Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Some 1
Early infantile epileptic encephalopathy with suppression bursts Has definitional manifestation Seizure false Inferred relationship Some
Early infantile epileptic encephalopathy with suppression bursts Is a 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. true Inferred relationship Some
Early infantile epileptic encephalopathy with suppression bursts Finding site Brain structure true Inferred relationship Some 1
Early infantile epileptic encephalopathy with suppression bursts Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis. Is a True Early infantile epileptic encephalopathy with suppression bursts Inferred relationship Some

Reference Sets

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