773415005: Contiguous ABCD1 DXS1357E deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome
• \Digestive system finding\Liver finding\Liver disease\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\Liver disease\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\Liver disease\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\Liver disease\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\Liver disease\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\Liver disease\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\Neurological disorder\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\Liver disease\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\Liver disease\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, Primitive. 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	Initial character case insensitive	SNOMED CT core
3723464011	Contiguous ABCD1 DXS1357E deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723466013	Zellweger-like contiguous gene deletion syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3723468014	CADDS - contiguous ABCD1 DXS1357E deletion syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

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