SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/765750001
http://purl.bioontology.org/ontology/SNOMEDCT/765750001
Preferred Name

Angioosteohypotrophic syndrome

Definitions
A rare congenital vascular anomaly syndrome characterised by venous or on occasion arterial malformations that lead to soft tissue hypertrophy and bone hypoplasia. An affected limb is generally shortened, highly deformed, painful and oedematous with associated bone and muscle hypotrophy. Single parts or multiple small parts of limbs are typically affected but more extensive involvement including complete extremity shoulder girdle and axilla have been reported. A rare congenital vascular anomaly syndrome characterized by venous or on occasion arterial malformations that lead to soft tissue hypertrophy and bone hypoplasia. An affected limb is generally shortened, highly deformed, painful and edematous with associated bone and muscle hypotrophy. Single parts or multiple small parts of limbs are typically affected but more extensive involvement including complete extremity shoulder girdle and axilla have been reported.
Synonyms
Angio-osteohypotrophic syndrome (disorder)
Servelle Martorell syndrome
Angio-osteohypotrophic syndrome
Phlebectatic osteohypoplastic angiodysplasia
Type http://www.w3.org/2002/07/owl#Class
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