autosomaal dominante hereditaire aandoening
hereditaire aandoening van bewegingsapparaat
hereditaire ontwikkelingsstoornis
osteopoikilie
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geïsoleerde osteopoikilie (aandoening)
geïsoleerde osteopoikilie
geïsoleerde osteopathia condensans disseminata
geïsoleerde osteopoikilose
Isolated osteopoikilosis
A rare primary bone dysplasia with characteristics of multiple small round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal and tarsal bones. The condition is usually clinically silent and discovered only incidentally although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.
Id1231182008
StatusPrimitive
Has interpretationboven referentiebereik
Interpretsbotdensitometrie
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map166119
SNOMED CT to ICD-10 extended map
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified