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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/722027009
http://purl.bioontology.org/ontology/SNOMEDCT/722027009
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|---|---|
| Preferred Name | Kallman syndrome with heart disease |
| Definitions |
Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.
Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.
Syndrome with characteristics of hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Less than 10 cases have been described so far.
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| Synonyms |
Kallman syndrome with cardiopathy
Kallman syndrome with heart disease (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Syndrome with characteristics of hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Less than 10 cases have been described so far. |
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| prefLabel | Kallman syndrome with heart disease
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| altLabel |
Kallman syndrome with cardiopathy
Kallman syndrome with heart disease (disorder)
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20170131
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| cui | C4302897
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| Has pathological process | |
| CTV3ID | XUujZ
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| DEFINITION STATUS ID | 900000000000074008
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| CASE SIGNIFICANCE ID | 900000000000017005
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| Occurs in | |
| tui | T047
|
| Active | 1
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| Has associated morphology | |
| notation | 722027009
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| type | |
| subClassOf |
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| Due to | |
| Subset member | 447562003~MAPRULE~TRUE
447562003~MAPTARGET~E23.0
447562003~MAPTARGET~Q24.8
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPADVICE~ALWAYS Q24.8
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~I51.9
900000000000497000~MAPTARGET~XUujZ
447562003~MAPADVICE~ALWAYS Q30.8
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~E23.0
447562003~MAPADVICE~ALWAYS E23.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
447562003~MAPGROUP~3
6011000124106~MAPADVICE~ALWAYS I51.9
6011000124106~MAPADVICE~ALWAYS E23.0
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q30.8
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