| autosomaal dominante motorische en sensorische neuropathie type 2Z (aandoening) | | autosomaal dominante motorische en sensorische neuropathie type 2Z | | autosomaal dominante CMT 2 door MORC2-mutatie
autosomaal dominante HMSN 2Z
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door mutatie van 'MORC family CW-type zinc finger 2'
| | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 (MORC family CW-type zinc finger 2) mutation
| | A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to also involve the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes as well as learning difficulties. |
| | Id | 1187564009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 466768 |
| 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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