Autosomal recessive hereditary disorder
Cardiovascular system hereditary disorder
Congenital anomaly of skeletal muscle
Congenital septal defect of heart
Congenital strabismus
Decreased muscle tone
Developmental delay
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary disorder of the visual system
Hereditary myopathy
Multiple system malformation syndrome
Poor muscle tone
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Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
A rare genetic non-dystrophic congenital myopathy disorder characterized by neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.
syndroom van ernstige hypotonie, psychomotorische ontwikkelingsachterstand, strabisme en hartseptumdefect
syndroom van ernstige hypotonie, psychomotorische ontwikkelingsachterstand, strabisme en cardiaal septumdefect
Id1187212004
StatusPrimitive
Has interpretationDecreased
InterpretsMuscle tone
Associated morphologyMorphologically abnormal structure
Finding siteSkeletal muscle structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteEye region structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDefect
Finding siteCardiac septum 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