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syndroom van autosomaal recessieve spastische ataxie, opticusatrofie en dysartrie (aandoening)
syndroom van autosomaal recessieve spastische ataxie, opticusatrofie en dysartrie
syndroom van autosomaal recessieve spastische ataxie, atrofie van oogzenuw en dysartrie
syndroom van autosomaal recessieve spastische ataxie, atrofie van nervus opticus en dysartrie
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
SPAX 4 - autosomal recessive spastic ataxia type 4
Autosomal recessive spastic ataxia type 4
A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11.
Id784347002
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van nervus opticus
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