||
autosomaal recessieve spastische paraplegie type 9B (aandoening)
autosomaal recessieve spastische paraparese type 9B
AR-SPG9B
autosomaal recessieve spastische paraplegie type 9B
Autosomal recessive spastic paraplegia type 9B
A rare complex hereditary spastic paraplegia with characteristics of early onset of slowly progressive spastic para or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature and urinary incontinence.
Id1187467000
StatusPrimitive
Clinical courseprogressief
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
SNOMED CT to Orphanet simple map447760
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