autosomaal recessieve hereditaire aandoening	cerebrale atrofie	congenitale neuropathie	hereditaire ataxie	hereditaire degeneratieve aandoening van centraal zenuwstelsel	leukodystrofie
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syndroom van leukencefalopathie, ataxie, hypodontie en hypomyelinisatie (aandoening)
	syndroom van leukencefalopathie, ataxie, hypodontie en hypomyelinisatie
	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
	Ataxia, delayed dentition, hypomyelination syndrome
	Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.

Id	764095005
Status	Primitive

Associated morphology	dystrofie
Finding site	structuur van witte stof van hersenen en ruggenmerg

Associated morphology	verandering van myelineschede
Finding site	structuur van gemyeliniseerde zenuwvezel

Associated morphology	atrophia
Finding site	structuur van cerebrum
Occurrence	congenitaal

referentieset met complexe 'mapping' naar ICD-10

Target	E75.2
Rule	TRUE
Advice	ALWAYS E75.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified