X-gebonden spondylo-epimetafysaire dysplasie (aandoening)
X-gebonden spondylo-epimetafysaire dysplasie
X-linked spondyloepimetaphyseal dysplasia
A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLimb length
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93349
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified