Autosomal recessive hereditary disorder
Congenital myopathy with fiber type disproportion
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
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Congenital fiber-type disproportion myopathy due to ZAK mutation (disorder)
Congenital fiber-type disproportion myopathy due to ZAK mutation
CNM6 - centronuclear myopathy 6
A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
Id1201964008
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