perifere dysostose (aandoening) DEPRECATED
perifere dysostose
Peripheral dysostosis
A rare primary bone dysplasia with characteristics of cone-shaped epiphyses of the phalanges, hyperextensibility and hyper-flexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.
Id773985008
StatusPrimitive
Concept inactivation indicator reference set1186917008 | Classification derived component | (2024-07-01)
REPLACED BY association reference set66758006 | acrodysostose | (2024-07-01)
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1795