| autosomaal recessieve motorische en sensorische neuropathie type 2X (aandoening) | | autosomaal recessieve motorische en sensorische neuropathie type 2X | | autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2 door SPG11-mutatie
autosomaal recessieve HMSN 2X
autosomaal recessieve CMT 2 door mutatie van gen voor 'SPG11 vesicle trafficking associated, spatacsin'
| | Autosomal recessive Charcot-Marie-Tooth disease type 2X | | Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation
Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (SPG11 vesicle trafficking associated, spatacsin) mutation
| | A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory. |
| | Id | 1187563003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 466775 |
| 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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