loading...| Preferred Name |
Poland anomaly |
|
| Synonyms |
Poland syndrome Poland anomalad Poland anomaly (disorder) Unilateral defect of pectoralis muscle AND syndactyly of hand |
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| Definitions |
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/38371006 |
|
| Active |
1 |
|
| altLabel |
Poland syndrome Poland anomalad Poland anomaly (disorder) Unilateral defect of pectoralis muscle AND syndactyly of hand |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000017005 |
|
| CTV3ID |
PF594 |
|
| cui |
C0032357 |
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| definition |
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance. |
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| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
38371006 |
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| Occurs in | ||
| prefLabel |
Poland anomaly |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 900000000000497000~MAPTARGET~PF594 447562003~CORRELATIONID~447561005 6011000124106~MAPRULE~IFA 720757001 | Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) | 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q78.8 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPRULE~IFA 720757001 | Craniofrontonasal dysplasia with Poland anomaly syndrome | 6011000124106~MAPCATEGORYID~447639009 447562003~MAPTARGET~Q79.8 447562003~MAPADVICE~ALWAYS Q79.8 6011000124106~MAPPRIORITY~1 6011000124106~MAPTARGET~Q79.8 6011000124106~MAPADVICE~ALWAYS Q79.8 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF CRANIOFRONTONASAL DYSPLASIA WITH POLAND ANOMALY SYNDROME CHOOSE Q78.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 |
|
| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/373413006 |