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autosomaal recessieve spastische paraparese type 75 (aandoening)
autosomaal recessieve spastische paraparese type 75
SPG75
autosomaal recessieve spastische paraplegie type 75
Autosomal recessive spastic paraplegia type 75
A rare complex hereditary spastic paraplegia with characteristics of early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.
Id1187470001
StatusPrimitive
Clinical courseprogressief
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
SNOMED CT to Orphanet simple map459056
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