Autosomal recessive hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Myopathy with abnormality of histochemical fiber type
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Congenital myopathy with reduced type 2 muscle fibers (disorder)
Congenital myopathy with reduced type 2 muscle fibers
Congenital myopathy with type II fiber atrophy
Congenital myopathy with fast-twitch fiber atrophy
Congenital myopathy with reduced type II muscle fibers
Congenital myopathy with type 2 muscle fiber atrophy
A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.
Id1255274002
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteSkeletal muscle structure
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
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