loading...| Preferred Name |
Familial caudal dysgenesis |
|
| Synonyms |
Familial caudal dysgenesis (disorder) Rudd Klimek syndrome |
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| Definitions |
A clinical entity that can present as variable anomalies of the caudal pole. It has been described in four siblings and their father's half-sister. The first sibling had aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Two of the siblings showed full sirenomelia, one with a complex congenital heart defect. The fourth case had an imperforate anus and an excessively long umbilical cord. The half-sister had an imperforate anus, rectovaginal fistula and genitourinary anomalies. The syndrome appears to be expressed as a dominant trait with reduced penetrance and variable expressivity. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/722493007 |
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| Active |
1 |
|
| altLabel |
Familial caudal dysgenesis (disorder) Rudd Klimek syndrome |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XUurD |
|
| cui |
C2931053 |
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| definition |
A clinical entity that can present as variable anomalies of the caudal pole. It has been described in four siblings and their father's half-sister. The first sibling had aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Two of the siblings showed full sirenomelia, one with a complex congenital heart defect. The fourth case had an imperforate anus and an excessively long umbilical cord. The half-sister had an imperforate anus, rectovaginal fistula and genitourinary anomalies. The syndrome appears to be expressed as a dominant trait with reduced penetrance and variable expressivity. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20170131 |
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| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
722493007 |
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| Occurs in | ||
| prefLabel |
Familial caudal dysgenesis |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000497000~MAPTARGET~XUurD 6011000124106~MAPADVICE~ALWAYS Q76.49 900000000000508004~ACCEPTABILITYID~900000000000549004 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~MAPTARGET~Q76.49 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
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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/129139009 http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/12820001 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/82354003 |