773415005: Contiguous ABCD1 DXS1357E deletion syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Digestive system finding (finding)\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\trouble métabolique\troubles métaboliques et génétiques affectant le foie\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)

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

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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