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CoA-synthase-geassocieerde neurodegeneratie (aandoening)
CoA-synthase-geassocieerde neurodegeneratie
Coenzyme A synthase protein associated neurodegeneration
Neurodegeneration with brain iron accumulation due to COASY mutation
COASY protein-associated neurodegeneration
CoPAN - coenzyme A synthase protein associated neurodegeneration
COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by 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.
Id732264002
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG23.0
TermZiekte van Hallervorden-Spatz
SNOMED CT to Orphanet simple map397725
SNOMED CT to ICD-10 extended map
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