Autosomal recessive hereditary disorder	Developmental hereditary disorder	Inherited metabolic disorder of nervous system	Intellectual disability	Metabolic disorder of transport
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Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
	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.
	syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte

Id	782886007
Status	Primitive

Finding site	Structure of nervous system
Occurrence	Congenital

Pathological process

Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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

Target	F82
Rule	TRUE
Advice	ALWAYS F82
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G23.8
Rule	TRUE
Advice	ALWAYS G23.8
Correlation	SNOMED CT source code to target map code correlation not specified