| X-gebonden myopathie met overmatige autofagie (aandoening) | | X-gebonden myopathie met overmatige autofagie | | XMEA
| | X-linked myopathy with excessive autophagy | | Vacuolar myopathy
| | This myopathy is a childhood-onset X-linked myopathy with characteristics of slow progression of muscle weakness and unique histopathological findings. It has been described in about fifteen families The first manifestations appear typically in children around 5-10 years of age and include difficulty climbing stairs and running. Transmission is X-linked recessive; female carriers are asymptomatic or only mildly affected. The Xq28 locus has been associated with the disease. |
| | Id | 719815005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.8 | | Term | Overige gespecificeerde primaire spieraandoeningen |
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| SNOMED CT to Orphanet simple map | 25980 |
| SNOMED CT to ICD-10 extended map | | Target | G71.8 | | Rule | TRUE | | Advice | ALWAYS G71.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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