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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome

\Digestive system finding\Liver finding\Liver disease\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Digestive system finding\Disorder of digestive system\Perinatal digestive system disorders\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome

\Eye / vision finding\Globe finding\Anterior segment 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\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\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Eye / vision finding\Globe finding\Anterior segment 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\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\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\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion 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 of eye\Anomaly of eye\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 of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\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 of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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\Congenital anomaly of lens\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\Genetic disease\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of fetus or newborn\Perinatal digestive system disorders\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of fetus 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 of eye\Anomaly of eye\Lesion 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 of eye\Anomaly of eye\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 of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\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 of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\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\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of body system\Disorder of digestive system\Perinatal digestive system disorders\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Hepatic failure\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\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 of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\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, Primitive. 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 Active Case insensitive SNOMED CT core

5159428013 Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Is a	Perinatal digestive system disorders	true	Inferred relationship	Some
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Occurrence	Neonatal	true	Inferred relationship	Some	2
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Finding site	Liver structure	true	Inferred relationship	Some	2
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Is a	Neonatal disorder	true	Inferred relationship	Some
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	Is a	Hepatic failure	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
5159427015	Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5159428013	Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core