Autosomal recessive hereditary disorder
Developmental hereditary disorder
Hereditary degenerative disease of central nervous system
Intellectual disability
Leukodystrophy Leucodystrophy
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Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder)
RARS-related autosomal recessive hypomyelinating leukodystrophy
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy
A rare genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.
Id1220600004
StatusPrimitive
Pathological processPathological developmental process
Associated morphologyMyelin sheath alteration
Finding siteMyelinated nerve fiber structure
Associated morphologyDystrophy
Finding siteWhite matter structure of brain and spinal cord
ICD-10 complex map reference set
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified