| syndroom van algehele ontwikkelingsachterstand, congenitaal cataract en ernstige neonatale hepatopathie (aandoening) | | syndroom van algehele ontwikkelingsachterstand, congenitaal cataract en ernstige neonatale hepatopathie | | syndroom van globale ontwikkelingsachterstand, congenitaal cataract en ernstige neonatale aandoening van lever
| | Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | | A rare genetic disease with characteristics of congenital cataract, neonatal hepatic failure, cholestatic jaundice and global developmental delay. Neonatal death due to progressive liver failure has been reported. |
| | Id | 1260140008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 521432 |
| SNOMED CT to ICD-10 extended map | | Target | K83.1 | | Rule | TRUE | | Advice | ALWAYS K83.1 | 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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