Autosomal recessive hereditary disorder
Congenital fiber-type disproportion myopathy due to SELENON mutation
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
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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.
Id1202025005
StatusDefined
Associated morphologyMorphologically abnormal structure
Finding siteSkeletal muscle structure
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to ICD-10 extended map
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