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Beta-propeller protein-associated neurodegeneration (disorder)
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
A rare form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of early-onset developmental delay and further neurological deterioration in early adulthood. Caused by de novo heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11.
neurodegeneratie geassocieerd met bètapropellerproteïne
beta-propeller protein-associated neurodegeneration
statische encefalopathie in kindertijd met neurodegeneratie in volwassenheid
SENDA
BPAN
NBIA5
neurodegeneratie met ijzerstapeling in hersenen type 5
Id732959007
StatusPrimitive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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