| hereditaire motorische en sensorische neuropathie type 2B5 (aandoening) | | hereditaire motorische en sensorische neuropathie type 2B5 | | autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2B5
| | Charcot-Marie-Tooth disease type 2B5 | | Autosomal recessive Charcot-Marie-Tooth disease type 2B5
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
Severe early-onset axonal neuropathy due to NEFL deficiency
Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency
| | A rare axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. |
| | Id | 771307003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G60.0 | | Term | Hereditaire motorische en sensorische neuropathie |
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| SNOMED CT to Orphanet simple map | 228374 |
| SNOMED CT to ICD-10 extended map | | Target | G60.0 | | Rule | TRUE | | Advice | ALWAYS G60.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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