80690008: Degenerative disease of the central nervous system (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system

\Disease\Degenerative disorder\Degenerative disease of the central nervous system
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system

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

2578901000005117 Degenerativ sygdom i centralnervesystemet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	Degeneration	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	Degeneration	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 (disorder)	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 med præsenil demens	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	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
Primær cerebellar degeneration, ikke nærmere specificeret	Is a	False	Degenerative disease of the central nervous system	Inferred relationship	Some
Cerebellar ataksi, ikke nærmere specificeret	Is a	False	Degenerative disease of the central nervous system	Inferred relationship	Some
Idiopathic feline polioencephalomyelitis	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
andre spinocerebellare sygdomme	Is a	False	Degenerative disease of the central nervous system	Inferred relationship	Some
spinocerebellar sygdom, ikke nærmere specificeret	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 neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. Onset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. Transmission appears to be autosomal recessive. A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome. The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration.	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 genetic neurodegenerative disease with 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. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.	Is a	False	Degenerative disease of the central nervous system	Inferred relationship	Some
A rare genetic neurodegenerative disease with characteristics of 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 behavioural changes including apathy, anxiety and delusions.	Is a	False	Degenerative disease of the central nervous system	Inferred relationship	Some
A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrhoeic 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 characterised by the onset of ataxia, dysarthria and cerebral white matter changes that 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 haematopathology, cytokine overproduction, fever, hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinemia.	Is a	False	Degenerative disease of the central nervous system	Inferred relationship	Some
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 with characteristics of 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. Leads 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	True	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

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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
2578901000005117	Degenerativ sygdom i centralnervesystemet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)