| myotonia fluctuans (aandoening) | | myotonia fluctuans | | vertraagd optredende myotonie na inspanning
| | Myotonia fluctuans | | Exercise induced delayed onset myotonia
Fluctuating myotonia
| | A form of potassium-aggravated myotonia which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Fluctuating myotonia develops during childhood or adolescence and involves the extraocular, bulbar and limb muscles. Myotonia fluctuans 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 | 715788001 | | 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 | 99734 |
| 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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