| autosomaal recessieve axonale motorische en sensorische neuropathie door stoornis van kopermetabolisme (aandoening) | | autosomaal recessieve axonale motorische en sensorische neuropathie door stoornis van kopermetabolisme | | autosomaal recessieve axonale CMT door defect van kopermetabolisme
autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth door stofwisselingsstoornis van koper
autosomaal recessieve axonale HMSN door stoornis van kopermetabolisme
| | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | | A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described. |
| | Id | 1187619001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 521411 |
| 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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