1260140008: Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Hepatic failure\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Digestive system finding (finding)\Liver finding\Disease of liver\Hepatic failure\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Hepatic failure\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Finding of neonate\Neonatal disorder\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Genetic disease\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Dec 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5159427015	Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159428013	Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400412018	A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400413011	A rare genetic disease characterised by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5159427015	Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159428013	Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159431014	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400412018	A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400413011	A rare genetic disease characterised by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
531731000274111	Kongenitale Katarakt-schwere neonatale Hepatopathie-allgemeine Entwicklungsverzögerung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
531731000274111	Kongenitale Katarakt-schwere neonatale Hepatopathie-allgemeine Entwicklungsverzögerung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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