1186713004: Growth delay, intellectual disability, hepatopathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
• \Digestive system finding (finding)\Liver finding\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Growth delay, intellectual disability, hepatopathy syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Growth delay, intellectual disability, hepatopathy syndrome
• \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\Growth delay, intellectual disability, hepatopathy syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
• \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\Growth delay, intellectual disability, hepatopathy syndrome
• \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\Growth delay, intellectual disability, hepatopathy syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Growth delay, intellectual disability, hepatopathy syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Growth delay, intellectual disability, hepatopathy syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Growth delay, intellectual disability, hepatopathy syndrome
• \Finding of neonate\Neonatal disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Developmental disorder (disorder)\Growth retardation (disorder)\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4667406018	Growth delay, intellectual disability, hepatopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667407010	Growth delay, intellectual disability, hepatopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399512011	A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399513018	A rare, genetic, syndromic intellectual disability disease characterised by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667406018	Growth delay, intellectual disability, hepatopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667407010	Growth delay, intellectual disability, hepatopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667408017	A rare genetic syndromic intellectual disability disease with characteristics of severe intrauterine and post-natal growth delay, moderate to severe intellectual disability and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399512011	A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399513018	A rare, genetic, syndromic intellectual disability disease characterised by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3393001001000110	Wachstumsverzögerung-Intelligenzminderung-Hepatopathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6268241000241119	syndrome de retard de croissance, handicap intellectuel et affection hépatique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6268251000241116	syndrome de retard de croissance, déficience intellectuelle et hépatopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6268261000241118	syndrome de retard de croissance, retard mental et maladie du foie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6268241000241119	syndrome de retard de croissance, handicap intellectuel et affection hépatique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6268251000241116	syndrome de retard de croissance, déficience intellectuelle et hépatopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6268261000241118	syndrome de retard de croissance, retard mental et maladie du foie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393001001000110	Wachstumsverzögerung-Intelligenzminderung-Hepatopathie-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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