| X-gebonden hereditaire motorisch-sensibele neuropathie type 5 (aandoening) | | X-gebonden hereditaire motorisch-sensibele neuropathie type 5 | | X-gebonden hereditaire motorisch-sensorische neuropathie type 5
X-gebonden HMSN type 5
| | X-linked Charcot-Marie-Tooth disease type 5 | | A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infancy to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral profound prelingual sensorineural hearing loss and progressive optic neuropathy. Females are asymptomatic and do not display the phenotype. |
| | Id | 763460007 | | 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 | 99014 |
| 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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