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syndroom van epileptische aanvallen, perceptief gehoorverlies, ataxie, verstandelijke beperking en verstoorde elektrolytenbalans (aandoening)
syndroom van epileptische aanvallen, perceptief gehoorverlies, ataxie, verstandelijke beperking en verstoorde elektrolytenbalans
syndroom van insulten, perceptief gehoorverlies, ataxie, verstandelijke beperking en verstoorde elektrolytenbalans
EAST-syndroom
syndroom van convulsies, perceptief gehoorverlies, ataxie, mentale retardatie en verstoorde elektrolytenbalans
syndroom van convulsies, perceptief gehoorverlies, ataxie, verstandelijke handicap en verstoorde elektrolytenbalans
SeSAME-syndroom
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome
SESAME syndrome
SESAME (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome
Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive.
Id721207002
StatusPrimitive
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetR56.8
RuleTRUE
AdviceALWAYS R56.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetR27.0
RuleTRUE
AdviceALWAYS R27.0
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
TargetE87.8
RuleTRUE
AdviceALWAYS E87.8
CorrelationSNOMED CT source code to target map code correlation not specified