|||||||
syndroom van heupdysplasie, enchondromatose en osteochondroom (aandoening)
syndroom van heupdysplasie, enchondromatose en osteochondroom
ziekte van Upington
Upington disease
Hip dysplasia with enchondromata and ecchondroma syndrome
Upington disease has characteristics of Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.
Id719041000
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van cartilago
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van acetabulum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map3408
SNOMED CT to ICD-10 extended map
TargetQ65.8
RuleTRUE
AdviceALWAYS Q65.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified