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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/782822006
http://purl.bioontology.org/ontology/SNOMEDCT/782822006
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|---|---|
| Preferred Name | Infantile cerebellar and retinal degeneration |
| Definitions |
A rare, neurodegenerative disorder characterised by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.
A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13.
A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.
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| Synonyms |
Infantile cerebellar and retinal degeneration (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare, neurodegenerative disorder characterised by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13. A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. |
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| prefLabel | Infantile cerebellar and retinal degeneration
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| altLabel | Infantile cerebellar and retinal degeneration (disorder)
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| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20190731
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| cui | C3281192
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| CTV3ID | XV9vm
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| DEFINITION STATUS ID | 900000000000074008
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| CASE SIGNIFICANCE ID | 900000000000448009
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| Occurs in | |
| tui | T047
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| Active | 1
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| Has associated morphology | |
| notation | 782822006
|
| type | |
| subClassOf | |
| Subset member | 900000000000497000~MAPTARGET~XV9vm
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~G11.9
6011000124106~MAPADVICE~ALWAYS G11.9
447562003~MAPGROUP~1
447562003~MAPTARGET~E88.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~H35.50
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS H35.50
6011000124106~MAPPRIORITY~1
447562003~MAPADVICE~ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
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