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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/720612000
http://purl.bioontology.org/ontology/SNOMEDCT/720612000
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|---|---|
| Preferred Name | Cardiospondylocarpofacial syndrome |
| Definitions |
This syndrome has characteristics of mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.
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| Synonyms |
Forney Robinson Pascoe syndrome
Forney syndrome
Cardiospondylocarpofacial syndrome (disorder)
Mitral regurgitation with deafness and skeletal anomalies syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | This syndrome has characteristics of mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. |
|---|---|
| altLabel |
Forney Robinson Pascoe syndrome
Forney syndrome
Cardiospondylocarpofacial syndrome (disorder)
Mitral regurgitation with deafness and skeletal anomalies syndrome
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| prefLabel | Cardiospondylocarpofacial syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 720612000
|
| Effective time | 20170131
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| Active | 1
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| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~Q87.5
6011000124106~MAPADVICE~ALWAYS Q87.5 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS Q24.9
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000497000~MAPTARGET~XUuAR
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q24.9
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUuAR
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| Occurs in | |
| cui | C2931461
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| Has associated morphology |
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