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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Digestive system finding (finding)\Liver finding\Disease of liver\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Visual system 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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Visual system 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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Finding of neonate\Neonatal disorder\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Genetic disease\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of body system\Visual system 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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of body system\Visual system 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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \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 (disorder)\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome

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

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

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