congenitale pseudoartrose van extremiteit (aandoening)
congenitale pseudoartrose van extremiteit
Congenital pseudoarthrosis of limb
A rare genetic non-syndromic limb malformation with characteristics of delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.
Associated morphologypseudoartrose
Finding sitebotstructuur van extremiteit
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale misvormingen van extremiteit(en)
SNOMED CT to Orphanet simple map157808
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q74.8
CorrelationSNOMED CT source code to target map code correlation not specified