autosomaal recessieve hereditaire aandoening	congenitale neuropathie	hereditaire ontwikkelingsstoornis	hereditaire stoornis van metabolisme van zenuwstelsel	metabole transportstoornis	verstandelijke beperking
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syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte (aandoening)
	syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte
	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
	A rare genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions.

Id	782886007
Status	Primitive

Finding site	structuur van systema nervosum
Occurrence	congenitaal

Pathological process

proces van pathologische ontwikkeling

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	G40.4
Term	Overige vormen van gegeneraliseerde epilepsie en epileptische syndromen

Target	F82
Term	Specifieke ontwikkelingsstoornis van motorische functies

Target	G23.8
Term	Overige gespecificeerde degeneratieve ziekten van basale ganglia

SNOMED CT to Orphanet simple map

263410

SNOMED CT to ICD-10 extended map

Target	E79.8
Rule	TRUE
Advice	ALWAYS E79.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified