loading...| Preferred Name | Familial long QT syndrome | |
| Synonyms |
Familial long QT syndrome (disorder) Congenital long QT syndrome Inherited long QT syndrome |
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| Definitions |
A rare group of genetic, cardiac rhythm diseases with characteristics of a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. The two cardinal manifestations are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities: prolongation of the QT interval and T wave abnormalities. Inheritance may be autosomal dominant or autosomal recessive and depends on the genes involved. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/442917000 |
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| Active |
1 |
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| altLabel |
Familial long QT syndrome (disorder) Congenital long QT syndrome Inherited long QT syndrome |
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| Associated finding of | ||
| CASE SIGNIFICANCE ID |
900000000000020002 |
|
| CTV3ID |
XUjIl |
|
| cui |
C1141890 |
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| definition |
A rare group of genetic, cardiac rhythm diseases with characteristics of a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. The two cardinal manifestations are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities: prolongation of the QT interval and T wave abnormalities. Inheritance may be autosomal dominant or autosomal recessive and depends on the genes involved. |
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| DEFINITION STATUS ID |
900000000000073002 |
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| Effective time |
20100131 |
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| Has finding site | ||
| INACTIVATION INDICATOR |
900000000000483008 |
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| notation |
442917000 |
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| prefLabel |
Familial long QT syndrome |
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| Subset member |
6011000124106~MAPRULE~IFA 422348008 | Andersen Tawil syndrome | 6011000124106~MAPADVICE~IF ANDERSEN TAWIL SYNDROME CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 719907006 | Timothy syndrome type 2 (disorder) | 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPTARGET~I49.8 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 6011000124106~MAPTARGET~Q87.89 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF ANDERSEN TAWIL SYNDROME CHOOSE I45.81 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPADVICE~ALWAYS I45.8 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 6011000124106~MAPTARGET~Q89.7 447562003~MAPCATEGORYID~447637006 447562003~MAPADVICE~ALWAYS I49.8 447562003~MAPTARGET~I45.8 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPRULE~IFA 719907006 | Timothy syndrome type 2 | 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPRULE~IFA 422348008 | Andersen Tawil syndrome (disorder) | 6011000124106~MAPADVICE~IF TIMOTHY SYNDROME TYPE 1 CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000490003~VALUEID~900000000000483008 6011000124106~MAPRULE~IFA 699256006 | Timothy syndrome type 1 (disorder) | 6011000124106~MAPPRIORITY~1 900000000000497000~MAPTARGET~XUjIl 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~IFA 699256006 | Timothy syndrome type 1 | 6011000124106~MAPADVICE~IF TIMOTHY SYNDROME TYPE 2 CHOOSE Q89.7 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS I45.81 | DESCENDANTS NOT EXHAUSTIVELY MAPPED 6011000124106~MAPPRIORITY~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPTARGET~I45.81 6011000124106~MAPADVICE~ALWAYS I45.81 |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/698270004 http://purl.bioontology.org/ontology/SNOMEDCT/363005004 |