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SNOMED CT
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/725146001
http://purl.bioontology.org/ontology/SNOMEDCT/725146001
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|---|---|
| Preferred Name | Atypical juvenile parkinsonism |
| Definitions |
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents.
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| Synonyms |
Atypical juvenile parkinsonism (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents. |
|---|---|
| altLabel | Atypical juvenile parkinsonism (disorder)
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| prefLabel | Atypical juvenile parkinsonism
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| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| notation | 725146001
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| Effective time | 20170731
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| Active | 1
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| Has finding site | |
| Has clinical course | |
| interprets | |
| subClassOf | |
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPTARGET~G20
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS G20 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~G20.C
6011000124106~MAPGROUP~1
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS G20.C | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS G20 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
900000000000497000~MAPTARGET~XUvVk
6011000124106~MAPTARGET~G20
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 | XUvVk
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| cui | C4510873
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| Has associated morphology |
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| No notes to display |