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syndroom van cochleosacculaire degeneratie en cataract (aandoening)
syndroom van cochleosacculaire degeneratie en cataract
syndroom van degeneratie van cochlea en sacculus en progressief cataract
Cochleosaccular degeneration and cataract syndrome
Cochleosaccular degeneration with progressive cataract
Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant.
Id715528001
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cochlea
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH83.8
TermOverige gespecificeerde aandoeningen van binnenoor
TargetH26.9
TermCataract, niet gespecificeerd
SNOMED CT to Orphanet simple map3233
SNOMED CT to ICD-10 extended map
TargetH83.8
RuleTRUE
AdviceALWAYS H83.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH26.9
RuleTRUE
AdviceALWAYS H26.9
CorrelationSNOMED CT source code to target map code correlation not specified