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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/715415005
http://purl.bioontology.org/ontology/SNOMEDCT/715415005
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|---|---|
| Preferred Name | Richards-Rundle syndrome |
| Definitions |
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
An extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
An extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
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| Synonyms |
Richards-Rundle syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. An extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. An extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. |
|---|---|
| altLabel | Richards-Rundle syndrome (disorder)
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| prefLabel | Richards-Rundle syndrome
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| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID | 900000000000017005
|
| notation | 715415005
|
| Effective time | 20160731
|
| Active | 1
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| Has finding site | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~G11.8
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS G11.8
900000000000497000~MAPTARGET~XUt9s
447562003~MAPTARGET~G60.2
447562003~MAPADVICE~ALWAYS G60.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUt9s
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| cui | C0796136
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| Has associated morphology |
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| No notes to display |