| syndroom van letale non-compactiecardiomyopathie van linker ventrikel, epileptische aanvallen, hypotonie, cataract en ontwikkelingsachterstand (aandoening) | | syndroom van letale non-compactiecardiomyopathie van linker ventrikel, epileptische aanvallen, hypotonie, cataract en ontwikkelingsachterstand | | syndroom van letale NCCM van linker ventrikel, convulsies, hypotonie, staar en ontwikkelingsachterstand
syndroom van letale LVNC, insulten, hypotonie, lenstroebeling en ontwikkelingsachterstand
| | Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | | A rare genetic neurometabolic disease with characteristics of global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. The usual presentation is metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. |
| | Id | 1172839002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 478049 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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