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syndroom van spondylometafysaire dysplasie, gebogen onderarmen en faciale dysmorfie (aandoening)
syndroom van spondylometafysaire dysplasie, gebogen onderarmen en faciale dysmorfie
syndroom van spondylometafysaire dysplasie, gebogen onderarmen en congenitale afwijking van aangezicht
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.
Id782913006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified