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CoA-synthase-geassocieerde neurodegeneratie (aandoening)
CoA-synthase-geassocieerde neurodegeneratie
Coenzyme A synthase protein associated neurodegeneration
CoPAN - coenzyme A synthase protein associated neurodegeneration
Neurodegeneration with brain iron accumulation due to COASY mutation
COASY protein-associated neurodegeneration
A very rare slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. The disease is caused by homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.
Id732264002
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG23.0
RuleTRUE
AdviceALWAYS G23.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified