loading...| Preferred Name |
Heart-hand syndrome Slovenian type |
|
| Synonyms |
Heart-hand syndrome Slovenian type (disorder) |
|
| Definitions |
A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/721014007 |
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| Active |
1 |
|
| altLabel |
Heart-hand syndrome Slovenian type (disorder) Cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome Atriodigital dysplasia Slovenian type |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 |
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| CTV3ID |
XUuNi |
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| cui |
C1857829 |
|
| definition |
A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20170131 |
|
| Has associated morphology |
http://purl.bioontology.org/ontology/SNOMEDCT/25723000 |
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| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/361367007 |
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| Has pathological process | ||
| notation |
721014007 |
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| Occurs in | ||
| prefLabel |
Heart-hand syndrome Slovenian type |
|
| Subset member |
447562003~MAPRULE~TRUE 447562003~MAPTARGET~Q87.2 447562003~MAPADVICE~ALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~ALWAYS Q68.1 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS Q24.9 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 900000000000497000~MAPTARGET~XUuNi 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~Q68.1 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~Q24.9 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/204394002 http://purl.bioontology.org/ontology/SNOMEDCT/88631000119105 http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/109420003 http://purl.bioontology.org/ontology/SNOMEDCT/399020009 http://purl.bioontology.org/ontology/SNOMEDCT/363005004 http://purl.bioontology.org/ontology/SNOMEDCT/363212003 |