Congenital myopathy with fiber type disproportion
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Congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
Congenital fiber-type disproportion myopathy due to SELENON mutation
Congenital fiber-type disproportion myopathy due to selenoprotein N mutation
A rare genetic 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.
Id1202023003
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteSkeletal muscle structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
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Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation
Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation