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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
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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