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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Liver finding\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
• \Finding of trunk structure\Liver finding\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
• \Intelligence finding\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\Neurodevelopmental disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Fetal and/or neonatal disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of body system\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of trunk (disorder)\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome

Status: current. Date: 30-Nov 2021

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
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	Inactive	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

Expanded Value Set

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