|||||||||||||
syndroom van ernstige hypotonie, psychomotorische ontwikkelingsachterstand, strabisme en hartseptumdefect (aandoening)
syndroom van ernstige hypotonie, psychomotorische ontwikkelingsachterstand, strabisme en hartseptumdefect
syndroom van ernstige hypotonie, psychomotorische ontwikkelingsachterstand, strabisme en cardiaal septumdefect
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.
Id1187212004
StatusPrimitive
Has interpretationverlaagd
Interpretsspiertonus
SNOMED CT to Orphanet simple map467176
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