Autosomal recessive hereditary disorder	Congenital anomaly of skeletal muscle	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Hereditary myopathy
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Congenital myopathy with myasthenic-like onset (disorder)
	Congenital myopathy with myasthenic-like onset
	A rare genetic, non-dystrophic myopathy with characteristics of fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.
	congenitale myopathie met myasthenie-achtige aanvang
	aangeboren myopathie met myasthenie-achtig begin

Id	763315005
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Skeletal muscle structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

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