autosomaal dominante motorische en sensorische neuropathie type 2V (aandoening) | | autosomaal dominante motorische en sensorische neuropathie type 2V | | autosomaal dominante CMT 2 door NAGLU-mutatie autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door mutatie van N-acetyl-alfaglucosaminidase autosomaal dominante HMSN 2V
| | Autosomal dominant Charcot-Marie-Tooth disease type 2V | | Hereditary adult onset painful axonal polyneuropathy Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU (N-acetyl-alpha-glucosaminidase) mutation
| | A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. |
| Id | 1187618009 | Status | Primitive |
SNOMED CT to Orphanet simple map | 447964 |
SNOMED CT to ICD-10 extended map | Target | G60.0 | Rule | TRUE | Advice | ALWAYS G60.0 | 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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