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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
Clinical courseprogressief
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2826
SNOMED CT to ICD-10 extended map
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