syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) DEPRECATED
syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
This syndrome has characteristics of severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.
Id722108000
StatusPrimitive
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2024-07-01)
SNOMED CT to Orphanet simple map2653