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arginyl-transfer-ribonucleïnezuur-synthetase 1-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie (aandoening)
arginyl-tRNA synthetase 1-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie
arginyl-transfer-ribonucleïnezuur-synthetase 1-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie
RARS-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie
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
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map438114
SNOMED CT to ICD-10 extended map
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