Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | | Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation | | Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation
| | A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation. |
| Id | 1202025005 | Status | Defined |
ICD-10 complex map reference set | Target | G71.2 | Rule | TRUE | Advice | ALWAYS G71.2 | 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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