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syndroom van spastische paraplegie, glaucoom en verstandelijke beperking (aandoening)
syndroom van spastische paraplegie, glaucoom en verstandelijke beperking
syndroom van spastische paraplegie, glaucoom en verstandelijke handicap
syndroom van spastische paraplegie, glaucoom en mentale retardatie
Spastic paraplegia, glaucoma, intellectual disability syndrome
Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.
Id733455003
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ15.0
RuleTRUE
AdviceALWAYS Q15.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified