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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
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

380 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Degenerative brain disorder Is a Disorder of brain (disorder) true Inferred relationship Some
Degenerative brain disorder Is a System disorder of the nervous system (disorder) false Inferred relationship Some
Degenerative brain disorder Is a Degenerative disease of the central nervous system true Inferred relationship Some
Degenerative brain disorder Finding site Structure of telencephalon false Inferred relationship Some
Degenerative brain disorder Associated morphology dégénérescence false Inferred relationship Some 1
Degenerative brain disorder Finding site Structure of central nervous system (body structure) false Inferred relationship Some 2
Degenerative brain disorder Finding site Brain tissue structure false Inferred relationship Some 1
Degenerative brain disorder Is a Lesion of brain false Inferred relationship Some
Degenerative brain disorder Finding site Brain tissue structure false Inferred relationship Some 1
Degenerative brain disorder Associated morphology dégénérescence false Inferred relationship Some 1
Degenerative brain disorder Associated morphology Degenerative abnormality true Inferred relationship Some 1
Degenerative brain disorder Finding site Brain structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Chronic hepatocerebral degeneration Is a False Degenerative brain disorder Inferred relationship Some
Neuroaxonal dystrophy Is a True Degenerative brain disorder Inferred relationship Some
Circumscribed atrophy of brain Is a True Degenerative brain disorder Inferred relationship Some
Frontal lobe degeneration Is a False Degenerative brain disorder Inferred relationship Some
Cerebral degeneration presenting primarily with dementia Is a False Degenerative brain disorder Inferred relationship Some
Corticobasal degeneration Is a False Degenerative brain disorder Inferred relationship Some
Progressive sclerosing poliodystrophy Is a False Degenerative brain disorder Inferred relationship Some
Cerebral degeneration in childhood Is a False Degenerative brain disorder Inferred relationship Some
Senile degeneration of brain Is a True Degenerative brain disorder Inferred relationship Some
Senile brain amyloidosis Is a False Degenerative brain disorder Inferred relationship Some
Cerebral degenerations usually manifest in childhood Is a False Degenerative brain disorder Inferred relationship Some
Cerebral degeneration in lipidoses EC Is a False Degenerative brain disorder Inferred relationship Some
Cerebral degeneration in Gaucher's disease Is a False Degenerative brain disorder Inferred relationship Some
Cerebral degeneration in Niemann-Pick disease Is a False Degenerative brain disorder Inferred relationship Some
Cerebral degeneration due to cerebrovascular disease Is a False Degenerative brain disorder Inferred relationship Some
Cerebral degeneration due to congenital hydrocephalus Is a False Degenerative brain disorder Inferred relationship Some
Cerebral degeneration due to neoplastic disease Is a False Degenerative brain disorder Inferred relationship Some
Other cerebral degenerations Is a False Degenerative brain disorder Inferred relationship Some
Frontotemporal degeneration Is a False Degenerative brain disorder Inferred relationship Some
Cerebral degeneration due to Creutzfeldt-Jakob disease Is a False Degenerative brain disorder Inferred relationship Some
Equine degenerative myeloencephalopathy Is a False Degenerative brain disorder Inferred relationship Some
Secondary cerebellar degeneration Is a False Degenerative brain disorder Inferred relationship Some
Hereditary spastic paraplegia Is a False Degenerative brain disorder Inferred relationship Some
Corticostriatal-spinal degeneration Is a False Degenerative brain disorder Inferred relationship Some
Birnbaum's syndrome Is a False Degenerative brain disorder Inferred relationship Some
Athetosis with spastic paraplegia Is a False Degenerative brain disorder Inferred relationship Some
Paramyoclonus multiplex Is a False Degenerative brain disorder Inferred relationship Some
Abortive cerebellar ataxia Is a False Degenerative brain disorder Inferred relationship Some
Olivopontocerebellar degeneration Is a False Degenerative brain disorder Inferred relationship Some
Dyssynergia cerebellaris myoclonica Is a False Degenerative brain disorder Inferred relationship Some
Juvenile cerebellar degeneration AND myoclonus Is a False Degenerative brain disorder Inferred relationship Some
Wilson's disease Is a True Degenerative brain disorder Inferred relationship Some
Cerebral degeneration (disorder) Is a True Degenerative brain disorder Inferred relationship Some
Posthemiplegic ataxia Is a False Degenerative brain disorder Inferred relationship Some
Cerebellar ataxia Is a False Degenerative brain disorder Inferred relationship Some
Cerebellar artery occlusion Is a False Degenerative brain disorder Inferred relationship Some
Primary progressive cerebellar degeneration Is a False Degenerative brain disorder Inferred relationship Some
Hereditary amblyopia with quadriplegia in the Irish Setter Is a False Degenerative brain disorder Inferred relationship Some
Cerebellar degeneration Is a True Degenerative brain disorder Inferred relationship Some
Jervis' syndrome Is a False Degenerative brain disorder Inferred relationship Some
Friedreich ataxia Is a False Degenerative brain disorder Inferred relationship Some
Sporadic cerebellar degeneration Is a False Degenerative brain disorder Inferred relationship Some
Spinocerebellar ataxia Is a False Degenerative brain disorder Inferred relationship Some
Acute cerebellar syndrome (disorder) Is a False Degenerative brain disorder Inferred relationship Some
Bailey-Cushing syndrome Is a False Degenerative brain disorder Inferred relationship Some
Roussy-Lévy syndrome Is a False Degenerative brain disorder Inferred relationship Some
Cerebellar deficiency syndrome Is a False Degenerative brain disorder Inferred relationship Some
Hereditary cerebellar degeneration Is a False Degenerative brain disorder Inferred relationship Some
Cystic degeneration of brain (disorder) Is a True Degenerative brain disorder Inferred relationship Some
GRN-related frontotemporal dementia Is a False Degenerative brain disorder Inferred relationship Some
Degenerative brain disorder caused by alcohol (disorder) Is a True Degenerative brain disorder Inferred relationship Some
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. Is a True Degenerative brain disorder Inferred relationship Some
Prion disease Is a True Degenerative brain disorder Inferred relationship Some
Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. Is a True Degenerative brain disorder Inferred relationship Some
Epilepsy co-occurrent and due to degenerative brain disorder (disorder) Due to True Degenerative brain disorder Inferred relationship Some 3
Epilepsy co-occurrent and due to degenerative brain disorder (disorder) Is a True Degenerative brain disorder Inferred relationship Some
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 Some
A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy. Is a True Degenerative brain disorder Inferred relationship Some
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, 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 Some
Extrapontine myelinolysis Is a True Degenerative brain disorder Inferred relationship Some
Multiple sclerosis of the brainstem Is a True Degenerative brain disorder Inferred relationship Some
Kernicterus of newborn Is a False Degenerative brain disorder Inferred relationship Some
Central pontine myelinolysis Is a True Degenerative brain disorder 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 Degenerative brain disorder Inferred relationship Some
A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Is a False Degenerative brain disorder Inferred relationship Some
A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis. Is a False Degenerative brain disorder Inferred relationship Some
A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy. Is a True Degenerative brain disorder Inferred relationship Some
Clinically isolated syndrome of brainstem (disorder) Is a True Degenerative brain disorder Inferred relationship Some
Hydrocephalus ex vacuo due to degenerative brain disorder (disorder) Due to True Degenerative brain disorder Inferred relationship Some 2
Acute disseminated encephalomyelitis Is a True Degenerative brain disorder Inferred relationship Some
Cerebral ataxia Is a True Degenerative brain disorder Inferred relationship Some
Leigh's disease Is a True Degenerative brain disorder Inferred relationship Some
Arrested hydrocephalus Is a True Degenerative brain disorder Inferred relationship Some
Primary degenerative dementia Is a True Degenerative brain disorder Inferred relationship Some
A rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions. Is a True Degenerative brain disorder Inferred relationship Some
Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth. Is a True Degenerative brain disorder Inferred relationship Some
A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthria and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertriglyceridemia, hypofibrinogenemia and hyperferritinemia. Is a True Degenerative brain disorder Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Is a True Degenerative brain disorder Inferred relationship Some
Primary progressive apraxia of speech (disorder) Is a True Degenerative brain disorder Inferred relationship Some
A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993. Is a True Degenerative brain disorder Inferred relationship Some
A rare, genetic, renal tubular disease characterized 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 Some
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. Is a True Degenerative brain disorder Inferred relationship Some
A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Is a True Degenerative brain disorder Inferred relationship Some
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. Is a True Degenerative brain disorder Inferred relationship Some
A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities. Is a True Degenerative brain disorder Inferred relationship Some
A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported. Is a True Degenerative brain disorder 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 Degenerative brain disorder Inferred relationship Some
Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement. Is a True Degenerative brain disorder 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 Degenerative brain disorder Inferred relationship Some
Atrophy of brainstem Is a True Degenerative brain disorder Inferred relationship Some
Global brain atrophy (disorder) Is a True Degenerative brain disorder Inferred relationship Some

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