773415005: Contiguous ABCD1 DXS1357E deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Digestive system finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Contiguous ABCD1 DXS1357E deletion syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Contiguous ABCD1 DXS1357E deletion syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723463017	Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3723464011	Contiguous ABCD1 DXS1357E deletion syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3723466013	Zellweger-like contiguous gene deletion syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3723468014	CADDS - contiguous ABCD1 DXS1357E deletion syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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