Autosomal recessive hereditary disorder	Developmental hereditary disorder	Disorder of lysine and hydroxylysine metabolism	Hereditary metabolic disease	Intellectual disability
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Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
	Seizures and intellectual disability due to hydroxylysinuria
	Seizures and intellectual disability due to hydroxylysinuria syndrome
	This syndrome has characteristics of hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.
	syndroom van epileptische aanvallen en verstandelijke beperking door hydroxylysinurie
	syndroom van convulsies en verstandelijke handicap door hydroxylysinurie syndroom van convulsies en mentale retardatie door hydroxylysinurie syndroom van insulten en verstandelijke beperking door hydroxylysinurie

Id	723994004
Status	Primitive

Pathological process

Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E72.3
Rule	TRUE
Advice	ALWAYS E72.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified