773415005: Contiguous ABCD1 DXS1357E deletion syndrome (disorder)

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

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

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 (core metadata concept)	SNOMED CT core
3723464011	Contiguous ABCD1 DXS1357E deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723466013	Zellweger-like contiguous gene deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723468014	CADDS - contiguous ABCD1 DXS1357E deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723467016	A rare genetic neurometabolic disease with characteristics of severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (for example blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed central nervous system myelination and ventriculomegaly).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723463017	Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723464011	Contiguous ABCD1 DXS1357E deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723466013	Zellweger-like contiguous gene deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723468014	CADDS - contiguous ABCD1 DXS1357E deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723467016	A rare genetic neurometabolic disease with characteristics of severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (for example blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed central nervous system myelination and ventriculomegaly).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3394461001000115	CADDS	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5866661000241112	syndrome de délétion contigüe de type Zellweger	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5866671000241116	syndrome de délétion contigüe de ABCD1 DXS1357E	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5866661000241112	syndrome de délétion contigüe de type Zellweger	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5866671000241116	syndrome de délétion contigüe de ABCD1 DXS1357E	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394461001000115	CADDS	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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