| 'chloride voltage-gated channel 6'-gerelateerd progressief syndroom van neurodegeneratie en perifere neuropathie beginnend op kinderleeftijd (aandoening) | | CLCN6-gerelateerd progressief syndroom van neurodegeneratie en perifere neuropathie beginnend op kinderleeftijd | | 'chloride voltage-gated channel 6'-gerelateerd progressief syndroom van neurodegeneratie en perifere neuropathie beginnend op kinderleeftijd
| | CLCN6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome | | Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome
| | A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. |
| | Id | 1340172003 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | G93.8 | | Rule | TRUE | | Advice | ALWAYS G93.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G31.8 | | Rule | TRUE | | Advice | ALWAYS G31.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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