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syndroom van cerebellaire ataxie, verstandelijke beperking, opticusatrofie en huidafwijkingen (aandoening)
syndroom van cerebellaire ataxie, verstandelijke beperking, opticusatrofie en huidafwijkingen
SCAR-5
autosomaal recessieve spinocerebellaire ataxie type 5
syndroom van cerebellaire ataxie, mentale retardatie, opticusatrofie en huidafwijkingen
syndroom van cerebellaire ataxie, verstandelijke handicap, opticusatrofie en huidafwijkingen
CAMOS syndrome
SCAR5 - spinocerebellar ataxia autosomal recessive 5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome
Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
Id726031001
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van nervus opticus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ07.8
RuleTRUE
AdviceALWAYS Q07.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified