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syndroom van osteogenesis imperfecta, retinopathie, epileptische aanvallen en verstandelijke beperking (aandoening)
syndroom van osteogenesis imperfecta, retinopathie, epileptische aanvallen en verstandelijke beperking
syndroom van Al Gazali-Nair
Al Gazali-Nair-syndroom
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
Al Gazali Nair syndrome
This syndrome has characteristics of osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two siblings born to consanguineous parents.
Id722110003
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
InterpretsBone formation
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified