| 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 | | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a 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. |
| | Id | 1187212004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 467176 |
| SNOMED CT to ICD-10 extended map | | 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 |
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