loading...| Preferred Name |
Angio-osteohypertrophic syndrome |
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| Synonyms |
Angioosteohypertrophic syndrome Angio-osteohypertrophic syndrome (disorder) |
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| Definitions |
A congenital vascular bone syndrome with the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy may vary from a slight difference to 10cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The existence of arteriovenous fistulas around or inside the bone is now being widely accepted as the main cause of bone overgrowth. Although the syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/723991007 |
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| Active |
1 |
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| altLabel |
Angioosteohypertrophic syndrome Angio-osteohypertrophic syndrome (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000448009 |
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| CTV3ID |
XUvM5 |
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| cui |
C0022739 |
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| definition |
A congenital vascular bone syndrome with the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy may vary from a slight difference to 10cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The existence of arteriovenous fistulas around or inside the bone is now being widely accepted as the main cause of bone overgrowth. Although the syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20170731 |
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| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
723991007 |
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| Occurs in | ||
| prefLabel |
Angio-osteohypertrophic syndrome |
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| Subset member |
447562003~MAPRULE~TRUE 447562003~MAPTARGET~Q87.2 447562003~MAPADVICE~ALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPTARGET~Q27.9 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPRULE~IFA 234143003 | Parkes Weber syndrome | 6011000124106~MAPADVICE~IF PARKES WEBER SYNDROME CHOOSE Q87.3 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS Q27.9 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF PARKES WEBER SYNDROME CHOOSE Q27.30 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000497000~MAPTARGET~XUvM5 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q87.3 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF KLIPPEL TRENAUNAY SYNDROME CHOOSE Q87.3 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPADVICE~ALWAYS Q79.9 6011000124106~MAPPRIORITY~1 6011000124106~MAPTARGET~Q79.9 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~ALWAYS Q87.3 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPRULE~IFA 721105004 | Klippel Trenaunay syndrome | 6011000124106~MAPPRIORITY~2 6011000124106~MAPTARGET~Q27.30 |
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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/8447006 |