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
	SeSAME-syndroom 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
	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.

Id	721207002
Status	Primitive

Finding site

Finding site

Finding site

Interprets

Pathological process

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	R56.8
Term	Overige en niet gespecificeerde convulsies

Target	H90.5
Term	Gehoorverlies door perceptiestoornis, niet gespecificeerd

Target	R27.0
Term	Ataxie, niet gespecificeerd

Target	F79.9
Term	Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen

Target	E87.8
Term	Overige stoornissen van elektrolyten- en vochtbalans, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

199343

SNOMED CT to ICD-10 extended map

Target	R56.8
Rule	TRUE
Advice	ALWAYS R56.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
Correlation	SNOMED CT source code to target map code correlation not specified

Target	R27.0
Rule	TRUE
Advice	ALWAYS R27.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	F79.9
Rule	TRUE
Advice	ALWAYS F79.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E87.8
Rule	TRUE
Advice	ALWAYS E87.8
Correlation	SNOMED CT source code to target map code correlation not specified