|||
hypomyelinisatie met betrokkenheid van hersenstam en ruggenmerg en beenspasticiteit (aandoening)
hypomyelinisatie met betrokkenheid van hersenstam en ruggenmerg en beenspasticiteit
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
HBSL - hypomyelination, brain stem, spinal cord, leg spasticity
A rare genetic leukodystrophy disorder with characteristics of diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia and motor developmental delay as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Caused by homozygous or compound heterozygous mutation in the DARS gene on chromosome 2q21.
Id777999008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
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