autosomaal recessieve hereditaire aandoening	cerebrale cyste	congenitale afwijking van cerebrum	hereditaire aandoening van zenuwstelsel	hereditaire ontwikkelingsstoornis	leukencefalopathie	verstandelijke beperking
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cystische leukencefalopathie zonder macrencefalie (aandoening)
	cystische leukencefalopathie zonder macrencefalie
	CLWM cystische leukencefalopathie zonder megalencefalie
	Cystic leukoencephalopathy without megalencephaly
	This syndrome has characteristics of non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far.

Id	720825005
Status	Primitive

Associated morphology	cyste
Finding site	structuur van lobus temporalis cerebri
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van substantia alba van cerebrum
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	E75.2
Term	Overige gespecificeerde sfingolipidosen

SNOMED CT to Orphanet simple map

85136

SNOMED CT to ICD-10 extended map

Target	E75.2
Rule	TRUE
Advice	ALWAYS E75.2
Correlation	SNOMED CT source code to target map code correlation not specified