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
	A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.

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	G40.4
Rule	TRUE
Advice	ALWAYS G40.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified