||||
'protein kinase cAMP-dependent type I regulatory subunit beta'-gerelateerde neurodegeneratieve dementie met intermediaire filamenten (aandoening)
'protein kinase cAMP-dependent type I regulatory subunit beta'-gerelateerde neurodegeneratieve dementie met intermediaire filamenten
PRKAR1B-gerelateerde neurodegeneratieve dementie met intermediaire filamenten
PRKAR1B-related neurodegenerative dementia with intermediate filaments
Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments
A rare genetic neurodegenerative disease with characteristics of dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes including apathy, anxiety and delusions.
Id774069007
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van encephalon
Has interpretationgestoord
Interpretscognitieve functie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG31.8
TermOverige gespecificeerde degeneratieve ziekten van zenuwstelsel
SNOMED CT to Orphanet simple map412066
SNOMED CT to ICD-10 extended map
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8
CorrelationSNOMED CT source code to target map code correlation not specified