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spinocerebellaire degeneratie gelijktijdig met maculaire corneadystrofie (aandoening)
spinocerebellaire degeneratie gelijktijdig met maculaire corneadystrofie
spastische ataxie met corneadystrofie
Bedouin spastic ataxia syndrome
Spastic ataxia and corneal dystrophy
Mousa-Al Din-Al Nassar syndrome
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy
Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic.
Id715465001
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH18.5
RuleTRUE
AdviceALWAYS H18.5
CorrelationSNOMED CT source code to target map code correlation not specified