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autosomaal dominante spastische paraplegie type 3 (aandoening)
autosomaal dominante spastische paraplegie type 3
autosomaal dominante spastische paraparese type 3
SPG3
Autosomal dominant spastic paraplegia type 3
Strumpell disease
A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.
Id782670003
StatusPrimitive
Clinical courseprogressief
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.3
TermCerebellaire ataxie met stoornis in DNA-reparatie
SNOMED CT to Orphanet simple map100984
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