| distale myopathie Welander-type (aandoening) | | distale myopathie Welander-type | | spierdystrofie van Welander
| | Distal myopathy Welander type | | Distal myopathy Swedish type
| | A distal myopathy with characteristics of weakness in the distal upper extremities usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremities primarily in toe and ankle extensors. This disease is mainly restricted to a geographical area around the Baltic Sea and is a late adult-onset disorder. Caused by a missense change (c.1362G>A; p.E384K) in TIA1 gene (2p13) which encodes nucleolysin TIA-1 isoform p40, a key component of stress granules. Inherited as an autosomal dominant trait. |
| | Id | 726107008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G72.8 | | Term | Overige gespecificeerde myopathieën |
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| SNOMED CT to Orphanet simple map | 603 |
| SNOMED CT to ICD-10 extended map | | Target | G71.0 | | Rule | TRUE | | Advice | ALWAYS G71.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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