Link to this page
SNOMED CT
Last uploaded:
January 16, 2025
Jump to:
Id | http://purl.bioontology.org/ontology/SNOMEDCT/721014007
http://purl.bioontology.org/ontology/SNOMEDCT/721014007
|
---|---|
Preferred Name | Heart-hand syndrome Slovenian type |
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.
|
Synonyms |
Heart-hand syndrome Slovenian type (disorder)
Cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome
Atriodigital dysplasia Slovenian type
|
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
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. |
---|---|
altLabel |
Heart-hand syndrome Slovenian type (disorder)
Cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome
Atriodigital dysplasia Slovenian type
|
prefLabel |
Heart-hand syndrome Slovenian type
|
Type ID |
900000000000003001
900000000000013009
|
CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
|
notation |
721014007
|
Effective time |
20170131
|
Active |
1
|
Has finding site | |
Has pathological process | |
subClassOf |
See more
See less
|
Semantic type UMLS property | |
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
See more
See less
|
DEFINITION STATUS ID |
900000000000074008
|
tui |
T047
|
CTV3ID |
XUuNi
|
Occurs in | |
cui |
C1857829
|
Has associated morphology |
Add comment
Delete | Subject | Author | Type | Created |
---|---|---|---|---|
No notes to display |