hereditaire aandoening van zenuwstelsel
maculaire corneadystrofie
spinocerebellaire aandoening
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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
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy
Spastic ataxia and corneal dystrophy
Mousa-Al Din-Al Nassar syndrome
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
Finding sitestructuur van medulla spinalis
Finding sitestructuur van cerebellum
Associated morphologydystrofie
Finding sitestructuur van substantia propria corneae
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG31.8
TermOverige gespecificeerde degeneratieve ziekten van zenuwstelsel
TargetH18.5
TermHereditaire corneadystrofieën
SNOMED CT to Orphanet simple map2572
SNOMED CT to ICD-10 extended map
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
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
TargetH52.1
RuleTRUE
AdviceALWAYS H52.1
CorrelationSNOMED CT source code to target map code correlation not specified