Autosomal recessive hereditary disorder
Hereditary degenerative disease of central nervous system
Leukodystrophy Leucodystrophy
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Pelizaeus Merzbacher like disease (disorder)
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.
Pelizaeus-Merzbacher-achtige ziekte
Id717042001
StatusPrimitive
Associated morphologyMyelin sheath alteration
Finding siteMyelinated nerve fiber structure
Associated morphologyDystrophy
Finding siteWhite matter structure of brain and spinal cord
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2
CorrelationSNOMED CT source code to target map code correlation not specified
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