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Spastic paraplegia with precocious puberty syndrome (disorder)
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.
syndroom van spastische paraplegie en pubertas praecox
Id732958004
StatusPrimitive
Clinical courseProgressive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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