loading...| Preferred Name | Ataxia telangiectasia variant | |
| Synonyms |
v-AT - ataxia telangiectasia variant Ataxia telangiectasia variant (disorder) |
|
| Definitions |
A rare genetic persistent combined dystonia with characteristics of clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present with extrapyramidal signs, such as resting tremor, choreoathetosis and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/763065008 |
|
| Active |
1 |
|
| altLabel |
v-AT - ataxia telangiectasia variant Ataxia telangiectasia variant (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XV1qX |
|
| cui |
C1876175 |
|
| definition |
A rare genetic persistent combined dystonia with characteristics of clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present with extrapyramidal signs, such as resting tremor, choreoathetosis and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20180731 |
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| Has finding site | ||
| interprets | ||
| notation |
763065008 |
|
| prefLabel |
Ataxia telangiectasia variant |
|
| Subset member |
900000000000497000~MAPTARGET~XV1qX 447562003~MAPADVICE~ALWAYS G11.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~G11.3 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 447562003~MAPTARGET~G11.3 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS G11.3 447562003~MAPCATEGORYID~447637006 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |