773415005: Contiguous ABCD1 DXS1357E deletion syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)

\Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)

\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 (disorder)
\Disease\Genetic disease\Hereditary disease\X-linked recessive hereditary disease\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
\Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Contiguous ABCD1 DXS1357E deletion syndrome (disorder)

Status: current. Date: 31-Jan 2019

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
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 Inactive 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
5405246017 CADDS is a rare, genetic, neurometabolic disease characterized by 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 (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405247014 CADDS is a rare, genetic, neurometabolic disease characterised by 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 (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Is a	Metabolic and genetic disorder affecting the liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Is a	Loss of single peroxisomal function	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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	Inactive	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
5405246017	CADDS is a rare, genetic, neurometabolic disease characterized by 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 (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405247014	CADDS is a rare, genetic, neurometabolic disease characterised by 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 (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core