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neurodegeneratie geassocieerd met bètapropellerproteïne (aandoening)
neurodegeneratie geassocieerd met bètapropellerproteïne
BPAN
NBIA5
neurodegeneratie met ijzerstapeling in hersenen type 5
beta-propeller protein-associated neurodegeneration
statische encefalopathie in kindertijd met neurodegeneratie in volwassenheid
SENDA
Beta-propeller protein-associated neurodegeneration
Neurodegeneration with brain iron accumulation type 5
Static encephalopathy of childhood with neurodegeneration in adulthood
BPAN - beta-propeller protein-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
Id732959007
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map329284
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