| acetazolamideresponsieve myotonie (aandoening) | | acetazolamideresponsieve myotonie | | ACZ-responsieve myotonie
| | Acetazolamide responsive myotonia | | A form of potassium-aggravated myotonia which shows dramatic improvement with the use of acetazolamide. Symptoms generally manifest during childhood (before 10 years old), with myotonia of the facial, limbs and/or intercostal muscles that is triggered by potassium ingestion, fasting and mildly by cold exposure and exercise. Muscle stiffness is generally painful. Acetazolamide-responsive myotonia is a sodium muscle channelopathy due to missense mutations of the SCN4A gene, encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. |
| | Id | 715793003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.1 | | Term | Myotone aandoeningen |
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| SNOMED CT to Orphanet simple map | 99736 |
| SNOMED CT to ICD-10 extended map | | Target | G71.1 | | Rule | TRUE | | Advice | ALWAYS G71.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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