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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/720609003
http://purl.bioontology.org/ontology/SNOMEDCT/720609003
|
|---|---|
| Preferred Name | Cardiomyopathy with cataract and hip spine disease syndrome |
| Definitions |
A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral discs, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.
A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterised by hip joint degeneration, irregular intervertebral discs, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.
Describes the extremely rare triad of dilated cardiomyopathy, premature cataract and articular disease of the hips and spine with characteristics of hip joint degeneration, irregular intervertebral discs and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.
|
| Synonyms |
Cardiomyopathy with cataract and hip spine disease syndrome (disorder)
Krasnow Qazi syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral discs, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterised by hip joint degeneration, irregular intervertebral discs, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. Describes the extremely rare triad of dilated cardiomyopathy, premature cataract and articular disease of the hips and spine with characteristics of hip joint degeneration, irregular intervertebral discs and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. |
|---|---|
| prefLabel | Cardiomyopathy with cataract and hip spine disease syndrome
|
| altLabel |
Cardiomyopathy with cataract and hip spine disease syndrome (disorder)
Krasnow Qazi syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20170131
|
| cui | C2931548
|
| CTV3ID | XUu9b
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
|
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 720609003
|
| type | |
| subClassOf |
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| Subset member | 6011000124106~MAPTARGET~M25.9
447562003~MAPTARGET~I42.0
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS M48.9
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
6011000124106~MAPTARGET~H26.9
447562003~MAPADVICE~ALWAYS M25.90
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS H26.0
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS I42.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
900000000000508004~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XUu9b
447562003~MAPADVICE~ALWAYS I42.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS M25.9
6011000124106~MAPGROUP~4
447562003~MAPTARGET~M25.90
6011000124106~MAPTARGET~M48.9
6011000124106~MAPTARGET~I42.0
6011000124106~MAPADVICE~ALWAYS H26.9
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
447562003~MAPGROUP~3
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~H26.0
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