| congenitaal syndroom van spierdystrofie, respiratoir falen, huidafwijkingen en hyperlaxiteit van gewrichten (aandoening) | | congenitaal syndroom van spierdystrofie, respiratoir falen, huidafwijkingen en hyperlaxiteit van gewrichten | | aangeboren syndroom van spierdystrofie, respiratoir falen, huidafwijkingen en gewrichtshyperlaxiteit
| | Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome | | Congenital muscular dystrophy Davignon Chauveau type
| | A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers and cap lesions. |
| | Id | 1172688004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 486815 |
| SNOMED CT to ICD-10 extended map | | Target | G71.0 | | Rule | TRUE | | Advice | ALWAYS G71.0 | 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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