| Coenzyme Q7, hydroxylase gene related distal hereditary motor neuropathy (disorder) | | COQ7 gene related distal hereditary motor neuropathy | | Coenzyme Q7, hydroxylase gene related distal hereditary motor neuropathy
| | A rare autosomal recessive distal hereditary motor neuropathy characterized by severe, slowly progressive, symmetric distal muscle weakness and atrophy of the limbs predominantly due to length-dependent peripheral motor neuropathy. Both the lower and upper limbs are affected, with a lower-limb predominance at onset. Patients present with walking difficulties and frequent falls. Pes cavus may also be present. Sensory abnormalities are usually absent, or mild when present. |
| | Id | 1388893002 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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