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syndroom van spastische paraplegie en pubertas praecox (aandoening)
syndroom van spastische paraplegie en pubertas praecox
Spastic paraplegia with precocious puberty syndrome
Syndrome with characteristics of precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.
Id732958004
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE30.1
RuleTRUE
AdviceALWAYS E30.1
CorrelationSNOMED CT source code to target map code correlation not specified