Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | | 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. | | hypomyelinisatie met betrokkenheid van hersenstam en ruggenmerg en beenspasticiteit |
| Id | 777999008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | E75.2 | Rule | TRUE | Advice | ALWAYS E75.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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