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Pelizaeus-Merzbacher-achtige ziekte (aandoening)
Pelizaeus-Merzbacher-achtige ziekte
Pelizaeus Merzbacher like disease
PMLD - Pelizaeus Merzbacher like disease
An autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterized by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leukodystrophy on magnetic resonance imaging.
Id717042001
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE75.2
TermOverige gespecificeerde sfingolipidosen
SNOMED CT to Orphanet simple map280270
SNOMED CT to ICD-10 extended map
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2
CorrelationSNOMED CT source code to target map code correlation not specified
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