spondylo-epifysaire dysplasie type Stanescu (aandoening)
spondylo-epifysaire dysplasie type Stanescu
SED Stanescu-type
Spondyloepiphyseal dysplasia Stanescu type
SED (spondyloepiphyseal dysplasia) Stanescu type
A rare spondyloepiphyseal dysplasia with characteristics of progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.
Clinical courseprogressief
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
SNOMED CT to Orphanet simple map459051
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified