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autosomaal recessieve spastische paraplegie type 5A (aandoening)
autosomaal recessieve spastische paraplegie type 5A
Autosomal recessive spastic paraplegia type 5A
A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted on brain magnetic resonance imaging in some patients. The disease is caused by homozygous or compound heterozygous mutation in the CYP7B1 gene on chromosome 8q12.
Id763373005
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
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