autosomaal recessieve hereditaire aandoening	hereditaire ontwikkelingsstoornis	stoornis van lysine- en hydroxylysinemetabolisme	verstandelijke beperking
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syndroom van epileptische aanvallen en verstandelijke beperking door hydroxylysinurie (aandoening)
	syndroom van epileptische aanvallen en verstandelijke beperking door hydroxylysinurie
	syndroom van insulten en verstandelijke beperking door hydroxylysinurie syndroom van convulsies en verstandelijke handicap door hydroxylysinurie syndroom van convulsies en mentale retardatie door hydroxylysinurie
	Seizures and intellectual disability due to hydroxylysinuria
	Seizures and intellectual disability due to hydroxylysinuria syndrome
	A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.

Id	723994004
Status	Primitive

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	E72.3
Term	Stoornissen van lysine- en hydroxylysinemetabolisme

SNOMED CT to Orphanet simple map

79156

SNOMED CT to ICD-10 extended map

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