ziekte van Camurati-Engelmann (aandoening)
ziekte van Camurati-Engelmann
diafysaire dysplasie
Diaphyseal dysplasia
Progressive diaphyseal dysplasia
Osteopathia hyperostotica multiplex infantis
Diaphyseal sclerosis
Engelmann syndrome
Engelmann's disease
Engelman's disease
Camurati-Engelmann syndrome
A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance.
Associated morphologydysplasie
Finding sitestructuur van diafyse
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
Has interpretationboven referentiebereik
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermProgressieve diafysaire dysplasie
SNOMED CT to Orphanet simple map1328
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q78.3
CorrelationSNOMED CT source code to target map code correlation not specified