| syndroom van leukencefalopathie, dystonie en motorische neuropathie (aandoening) | | syndroom van leukencefalopathie, dystonie en motorische neuropathie | | Leukoencephalopathy, dystonia, motor neuropathy syndrome | | A peroxisomal neurodegenerative disorder with characteristics of spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotropic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. There is evidence this disease is caused by homozygous mutation in the SCP2 gene on chromosome 1p32. |
| | Id | 733452000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E75.2 | | Term | Overige gespecificeerde sfingolipidosen |
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| SNOMED CT to Orphanet simple map | 163684 |
| SNOMED CT to ICD-10 extended map | | 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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