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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/721010003
http://purl.bioontology.org/ontology/SNOMEDCT/721010003
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|---|---|
| Preferred Name | Heart-hand syndrome type 2 |
| Definitions |
An extremely rare type of heart-hand syndrome. Described in two families to date, with characteristics of upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).
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| Synonyms |
Atriodigital dysplasia type 2
Tabatznik syndrome
Heart-hand syndrome type 2 (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An extremely rare type of heart-hand syndrome. Described in two families to date, with characteristics of upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). |
|---|---|
| altLabel |
Atriodigital dysplasia type 2
Tabatznik syndrome
Heart-hand syndrome type 2 (disorder)
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| prefLabel | Heart-hand syndrome type 2
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 721010003
|
| Effective time | 20170131
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| Active | 1
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| Has finding site | |
| Has pathological process | |
| subClassOf |
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| 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
900000000000497000~MAPTARGET~XUuO6
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPADVICE~ALWAYS Q68.1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q24.8
6011000124106~MAPTARGET~Q24.8
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q68.1
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUuO6
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| Occurs in | |
| cui | C2931323
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| Has associated morphology |
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