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52522001: Degenerative brain disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
198391016 Degenerative brain disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
790541011 Degenerative brain disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
87406016 Cerebral degeneration en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
198391016 Degenerative brain disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
198391016 Degenerative brain disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
790541011 Degenerative brain disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
790541011 Degenerative brain disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
275881000077110 affection dégénérative de l'encéphale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
474661000172111 maladie dégénérative du cerveau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
275881000077110 affection dégénérative de l'encéphale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
474661000172111 maladie dégénérative du cerveau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

357 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Degenerative brain disorder Is a Disorder of brain true Inferred relationship Existential restriction modifier (core metadata concept)
Degenerative brain disorder Is a System disorders of the nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Degenerative brain disorder Is a Degenerative disease of the central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Degenerative brain disorder Finding site Structure of telencephalon false Inferred relationship Existential restriction modifier (core metadata concept)
Degenerative brain disorder Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Degenerative brain disorder Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 2
Degenerative brain disorder Finding site Brain tissue structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Degenerative brain disorder Is a Lesion of brain (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Degenerative brain disorder Finding site Brain tissue structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Degenerative brain disorder Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Degenerative brain disorder Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Degenerative brain disorder Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Chronic hepatocerebral degeneration Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neuroaxonal dystrophy Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Circumscribed atrophy of brain Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Frontal lobe degeneration Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration presenting primarily with dementia Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Corticobasal degeneration Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sclerosing poliodystrophy Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration in childhood Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Senile degeneration of brain Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Senile brain amyloidosis (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degenerations usually manifest in childhood Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration in lipidoses EC Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration in Gaucher's disease Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration in Niemann-Pick disease Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration due to cerebrovascular disease (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration due to congenital hydrocephalus Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration due to neoplastic disease Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Other cerebral degenerations Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Frontotemporal degeneration Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration due to Creutzfeldt-Jakob disease (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Equine degenerative myeloencephalopathy Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Secondary cerebellar degeneration Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Corticostriatal-spinal degeneration Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Birnbaum's syndrome (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Athetosis with spastic paraplegia Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Paramyoclonus multiplex Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Abortive cerebellar ataxia Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Olivopontocerebellar degeneration Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dyssynergia cerebellaris myoclonica (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cerebellar degeneration AND myoclonus Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Wilson's disease Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Posthemiplegic ataxia Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar artery occlusion Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Primary progressive cerebellar degeneration (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary amblyopia with quadriplegia in the Irish Setter Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar degeneration Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Jervis' syndrome (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Friedreich ataxia (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Sporadic cerebellar degeneration Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acute cerebellar syndrome Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bailey-Cushing syndrome Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Roussy-Lévy syndrome Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar deficiency syndrome (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebellar degeneration Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cystic degeneration of brain (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
GRN-related frontotemporal dementia Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Degenerative brain disorder caused by alcohol Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Prion disease Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy co-occurrent and due to degenerative brain disorder (disorder) Due to True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept) 3
Epilepsy co-occurrent and due to degenerative brain disorder (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
PEHO-like syndrome is a rare, genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Extrapontine myelinolysis Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple sclerosis of the brainstem (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Kernicterus of newborn (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Central pontine myelinolysis Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia with brain atrophy syndrome (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial dementia British type (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Integral membrane protein 2B related amyloidosis (disorder) Is a False Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ubiquitin specific peptidase 18 deficiency (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Clinically isolated syndrome of brainstem (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus ex vacuo due to degenerative brain disorder (disorder) Due to True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept) 2
Acute disseminated encephalomyelitis Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral ataxia Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Leigh's disease Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Arrested hydrocephalus Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Primary degenerative dementia Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ferro-cerebro-cutaneous syndrome (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fatal post-viral neurodegenerative disorder Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked mitochondrial encephalomyopathy (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Primary progressive apraxia of speech (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Infantile choroidocerebral calcification syndrome Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990. Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 27 (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
NAD(P)HX epimerase deficiency (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised 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 Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Krabbe disease due to saposin A deficiency (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)
Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder) Is a True Degenerative brain disorder Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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