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78689005: Chronic brain syndrome (disorder)

Status: current, 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
130571014 Chronic brain syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
130574018 Chronic encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819656010 Chronic brain syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4647091000241116 encéphalopathie chronique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

140 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chronic brain syndrome Is a syndrome cérébral non spécifique false Inferred relationship Some
Chronic brain syndrome Is a Chronic nervous system disorder true Inferred relationship Some
Chronic brain syndrome Finding site Brain structure true Inferred relationship Some 1
Chronic brain syndrome Course Chronic false Inferred relationship Some
Chronic brain syndrome Clinical course Chronic true Inferred relationship Some 2
Chronic brain syndrome Is a Disorder of brain (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent. Is a True Chronic brain syndrome Inferred relationship Some
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Is a True Chronic brain syndrome Inferred relationship Some
A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. Is a True Chronic brain syndrome Inferred relationship Some
A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association. Is a True Chronic brain syndrome Inferred relationship Some
A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. Is a True Chronic brain syndrome Inferred relationship Some
A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported. Is a True Chronic brain syndrome Inferred relationship Some
A rare genetic neurological disorder with characteristics of childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, seizures, cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal. Is a True Chronic brain syndrome Inferred relationship Some
A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis. Is a True Chronic brain syndrome Inferred relationship Some
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Is a True Chronic brain syndrome Inferred relationship Some
Corticobasal degeneration Is a True Chronic brain syndrome Inferred relationship Some
Atypical Parkinsonism (disorder) Is a True Chronic brain syndrome Inferred relationship Some
Parkinson's disease Is a True Chronic brain syndrome Inferred relationship Some
Progressive bulbar palsy of childhood Is a True Chronic brain syndrome Inferred relationship Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) Is a True Chronic brain syndrome Inferred relationship Some
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Is a True Chronic brain syndrome Inferred relationship Some
Multiple sclerosis of the brainstem Is a True Chronic brain syndrome Inferred relationship Some
Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. Is a True Chronic brain syndrome Inferred relationship Some

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