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80690008: Degenerative disease of the central nervous system (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
133853014 Degenerative disease of the central nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
821877013 Degenerative disease of the central nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
12471000077116 maladie dégénérative du système nerveux central fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

688 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Degenerative disease of the central nervous system Is a Disorder of the central nervous system (disorder) true Inferred relationship Some
Degenerative disease of the central nervous system Is a Degenerative disorder true Inferred relationship Some
Degenerative disease of the central nervous system Associated morphology dégénérescence false Inferred relationship Some 1
Degenerative disease of the central nervous system Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Degenerative disease of the central nervous system Is a Neurological lesion false Inferred relationship Some
Degenerative disease of the central nervous system Finding site Structure of central nervous system (body structure) true Inferred relationship Some 1
Degenerative disease of the central nervous system Associated morphology dégénérescence false Inferred relationship Some 1
Degenerative disease of the central nervous system Associated morphology Degenerative abnormality true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary degenerative disease of central nervous system Is a True Degenerative disease of the central nervous system Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Is a False Degenerative disease of the central nervous system Inferred relationship Some
Bovine progressive degenerative myeloencephalopathy Is a False Degenerative disease of the central nervous system Inferred relationship Some
Cerebral ataxia Is a False Degenerative disease of the central nervous system Inferred relationship Some
Progressive supranuclear ophthalmoplegia Is a False Degenerative disease of the central nervous system Inferred relationship Some
Leigh's disease Is a False Degenerative disease of the central nervous system Inferred relationship Some
Pigmentary pallidal degeneration Is a False Degenerative disease of the central nervous system Inferred relationship Some
Degenerative brain disorder Is a True Degenerative disease of the central nervous system Inferred relationship Some
Subacute combined degeneration of spinal cord Is a True Degenerative disease of the central nervous system Inferred relationship Some
Demyelinating disease of central nervous system Is a True Degenerative disease of the central nervous system Inferred relationship Some
AIDS with presenile dementia Is a False Degenerative disease of the central nervous system Inferred relationship Some
Spinal ataxia Is a True Degenerative disease of the central nervous system Inferred relationship Some
Spongy degeneration of central nervous system Is a False Degenerative disease of the central nervous system Inferred relationship Some
Alexander disease Is a False Degenerative disease of the central nervous system Inferred relationship Some
Spinocerebellar disease Is a False Degenerative disease of the central nervous system Inferred relationship Some
Thoracic radiculopathy due to diabetes mellitus (disorder) Is a False Degenerative disease of the central nervous system Inferred relationship Some
Arteriopathic granular atrophy of cerebral cortex (disorder) Is a False Degenerative disease of the central nervous system Inferred relationship Some
Atrophy of corpus callosum Is a False Degenerative disease of the central nervous system Inferred relationship Some
Late cortical cerebellar atrophy Is a False Degenerative disease of the central nervous system Inferred relationship Some
Birnbaum's syndrome Is a False Degenerative disease of the central nervous system Inferred relationship Some
Wilson's disease Is a False Degenerative disease of the central nervous system Inferred relationship Some
Congenital cerebellar cortical atrophy (disorder) Is a False Degenerative disease of the central nervous system Inferred relationship Some
Congenital ischemic atrophy of central nervous system structure Is a True Degenerative disease of the central nervous system Inferred relationship Some
Cerebellar deficiency syndrome Is a False Degenerative disease of the central nervous system Inferred relationship Some
Sporadic cerebellar degeneration Is a False Degenerative disease of the central nervous system Inferred relationship Some
Juvenile cerebellar degeneration AND myoclonus Is a False Degenerative disease of the central nervous system Inferred relationship Some
Cerebellar ataxia Is a False Degenerative disease of the central nervous system Inferred relationship Some
Primary progressive cerebellar degeneration Is a False Degenerative disease of the central nervous system Inferred relationship Some
Cerebellar artery occlusion Is a False Degenerative disease of the central nervous system Inferred relationship Some
Cerebellar degeneration Is a False Degenerative disease of the central nervous system Inferred relationship Some
Cerebellar ataxia associated with another disorder (disorder) Is a False Degenerative disease of the central nervous system Inferred relationship Some
Primary cerebellar degeneration NOS Is a False Degenerative disease of the central nervous system Inferred relationship Some
Cerebellar ataxia NOS Is a False Degenerative disease of the central nervous system Inferred relationship Some
polioencéphalomyélite féline idiopathique Is a False Degenerative disease of the central nervous system Inferred relationship Some
Friedreich ataxia Is a False Degenerative disease of the central nervous system Inferred relationship Some
Hereditary amblyopia with quadriplegia in the Irish Setter Is a False Degenerative disease of the central nervous system Inferred relationship Some
Hereditary spastic paraplegia Is a False Degenerative disease of the central nervous system Inferred relationship Some
Corticostriatal-spinal degeneration Is a False Degenerative disease of the central nervous system Inferred relationship Some
Roussy-Lévy syndrome Is a False Degenerative disease of the central nervous system Inferred relationship Some
Jervis' syndrome Is a False Degenerative disease of the central nervous system Inferred relationship Some
Athetosis with spastic paraplegia Is a False Degenerative disease of the central nervous system Inferred relationship Some
Bailey-Cushing syndrome Is a False Degenerative disease of the central nervous system Inferred relationship Some
Paramyoclonus multiplex Is a False Degenerative disease of the central nervous system Inferred relationship Some
Posthemiplegic ataxia Is a False Degenerative disease of the central nervous system Inferred relationship Some
Spinocerebellar ataxia Is a False Degenerative disease of the central nervous system Inferred relationship Some
Other spinocerebellar diseases Is a False Degenerative disease of the central nervous system Inferred relationship Some
Spinocerebellar disease NOS Is a False Degenerative disease of the central nervous system Inferred relationship Some
[X]Other hereditary ataxias Is a False Degenerative disease of the central nervous system Inferred relationship Some
Multiple system atrophy Is a False Degenerative disease of the central nervous system Inferred relationship Some
Acute cerebellar syndrome (disorder) Is a False Degenerative disease of the central nervous system Inferred relationship Some
Degenerative myelopathy Is a True Degenerative disease of the central nervous system Inferred relationship Some
Dying back phenomenon Is a False Degenerative disease of the central nervous system Inferred relationship Some
Glaucoma Is a False Degenerative disease of the central nervous system 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 False Degenerative disease of the central nervous system Inferred relationship Some
Primary congenital glaucoma (disorder) Is a False Degenerative disease of the central nervous system Inferred relationship Some
Primary degenerative dementia Is a False Degenerative disease of the central nervous system Inferred relationship Some
Primary progressive apraxia of speech (disorder) Is a False Degenerative disease of the central nervous system Inferred relationship Some
Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. Is a False Degenerative disease of the central nervous system Inferred relationship Some
Autonomic nervous system disorder co-occurrent and due to neurodegenerative disorder (disorder) Due to True Degenerative disease of the central nervous system Inferred relationship Some 1
Autonomic nervous system disorder co-occurrent and due to neurodegenerative disorder (disorder) Is a True Degenerative disease of the central nervous system Inferred relationship Some
Lumbar spondylosis with myelopathy Is a False Degenerative disease of the central nervous system Inferred relationship Some
A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. Is a False Degenerative disease of the central nervous system 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 False Degenerative disease of the central nervous system 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 False Degenerative disease of the central nervous system 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 False Degenerative disease of the central nervous system Inferred relationship Some
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. Is a False Degenerative disease of the central nervous system Inferred relationship Some
A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord. Is a False Degenerative disease of the central nervous system Inferred relationship Some
Synucleinopathy Is a True Degenerative disease of the central nervous system Inferred relationship Some
Leucodystrophy Is a True Degenerative disease of the central nervous system Inferred relationship Some
Ossifying pachymeningitis Is a True Degenerative disease of the central nervous system Inferred relationship Some
Optic atrophy Is a True Degenerative disease of the central nervous system Inferred relationship Some
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia. Is a False Degenerative disease of the central nervous system Inferred relationship Some
Superficial siderosis of central nervous system Is a False Degenerative disease of the central nervous system 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 False Degenerative disease of the central nervous system Inferred relationship Some
A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific Island of Guam. Is a True Degenerative disease of the central nervous system Inferred relationship Some
Diffuse melanosis of meninges Is a False Degenerative disease of the central nervous system Inferred relationship Some
Neurocutaneous melanosis Is a False Degenerative disease of the central nervous system 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 False Degenerative disease of the central nervous system Inferred relationship Some
Atrophy of axon of peripheral nerve structure (disorder) Is a True Degenerative disease of the central nervous system Inferred relationship Some
Atrophy of cervical spinal cord Is a True Degenerative disease of the central nervous system Inferred relationship Some
Atrophy of pyramidal tract Is a True Degenerative disease of the central nervous system Inferred relationship Some
Atrophy of spinocerebellar tract (disorder) Is a True Degenerative disease of the central nervous system Inferred relationship Some
Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder) Is a True Degenerative disease of the central nervous system Inferred relationship Some

This concept is not in any reference sets

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