| congenitale spierdystrofie Paradas-type (aandoening) | | congenitale spierdystrofie Paradas-type | | Congenital muscular dystrophy Paradas type | | Congenital myopathy Paradas type
| | An early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. To date, two cases have been described. The disease is caused by a mutation in the dysferlin gene (DYSF) coding for a protein involved in membrane repair. Transmission is autosomal recessive. |
| | Id | 725420009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.2 | | Term | Congenitale myopathieën |
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| SNOMED CT to Orphanet simple map | 199329 |
| SNOMED CT to ICD-10 extended map | | Target | G71.2 | | Rule | TRUE | | Advice | ALWAYS G71.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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