| spierdystrofie Selcen-type (aandoening) | | spierdystrofie Selcen-type | | Selcen-spierdystrofie
| | Muscular dystrophy Selcen type | | Selcen muscular dystrophy
| | Disease characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions and apoptosis of a small fraction of the nuclei distinguish the disease. Caused by a mutation in the BAG3 gene, encoding a protein localized to the Z disk. Transmission is autosomal dominant. |
| | Id | 723407009 | | 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 | 199340 |
| SNOMED CT to ICD-10 extended map | | Target | G71.8 | | Rule | TRUE | | Advice | ALWAYS G71.8 | 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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