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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/789657008
http://purl.bioontology.org/ontology/SNOMEDCT/789657008
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|---|---|
| Preferred Name | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis |
| Definitions |
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem.
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| Synonyms |
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder)
Juvenile parkinsonism, neuronal ceroid lipofuscinosis
CLN12 disease
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem. |
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| altLabel | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder)
Juvenile parkinsonism, neuronal ceroid lipofuscinosis
CLN12 disease
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| prefLabel | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 789657008
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| Effective time | 20200131
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| Active | 1
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| Has finding site | |
| Has clinical course | |
| interprets | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPTARGET~E75.4
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS E75.4
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~E75.4
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS E75.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
900000000000497000~MAPTARGET~XVBai
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XVBai
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| Occurs in | |
| cui | C5230619
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| Has associated morphology |
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