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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\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)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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\Anterior segment finding (finding)\Crystalline lens finding\Cataract 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\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\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\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\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\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\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\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\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\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\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\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\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)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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)\Congenital anomaly of lens\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)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\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)\Disorder 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\Disorder of abdomen (disorder)\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\Disorder of abdomen (disorder)\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\Disorder of abdomen (disorder)\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\Anterior segment finding (finding)\Crystalline lens finding\Cataract 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\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\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\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\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\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\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\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\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\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\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\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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 (disorder)\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 (disorder)\Degenerative disorder of eye\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 (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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 of lens\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 of lens\Congenital anomaly of lens\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\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Fetal and/or neonatal 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\Fetal and/or neonatal disorder\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\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\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\Disorder 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\Disorder of abdomen (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\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)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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)\Congenital anomaly of lens\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\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\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\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

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

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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.	Is a	Global developmental delay	true	Inferred relationship	Some
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.	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some
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.	Is a	Genetic disease	true	Inferred relationship	Some
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.	Is a	Congenital cataract	true	Inferred relationship	Some
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.	Occurrence	Congenital	true	Inferred relationship	Some	1
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 site	Lens clear	true	Inferred relationship	Some	1
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.	Associated morphology	Abnormally opaque structure (morphologic abnormality)	true	Inferred relationship	Some	1
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.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
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.	Occurrence	Neonatal	true	Inferred relationship	Some	2
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 site	Liver structure	true	Inferred relationship	Some	2
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.	Is a	Neonatal disorder	true	Inferred relationship	Some
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.	Is a	Hepatic failure	true	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
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
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