768663003: Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\CLCN2-related leukoencephalopathy
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\CLCN2-related leukoencephalopathy
\Head finding (finding)\Finding of head region\Leukoencephalopathy\CLCN2-related leukoencephalopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\CLCN2-related leukoencephalopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\CLCN2-related leukoencephalopathy

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\CLCN2-related leukoencephalopathy

\Cerebellar ataxia\CLCN2-related leukoencephalopathy

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\CLCN2-related leukoencephalopathy
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\CLCN2-related leukoencephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\CLCN2-related leukoencephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\CLCN2-related leukoencephalopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\CLCN2-related leukoencephalopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\CLCN2-related leukoencephalopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\CLCN2-related leukoencephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\CLCN2-related leukoencephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\CLCN2-related leukoencephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\CLCN2-related leukoencephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\CLCN2-related leukoencephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\CLCN2-related leukoencephalopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3686396018 Leukoencephalopathy with mild cerebellar ataxia and white matter edema en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3686397010 CLCN2-related leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3686398017 Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3686399013 Leukoencephalopathy with ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3686401019 CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3789583015 CLCN2-related leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3789584014 Leucoencephalopathy with mild cerebellar ataxia and white matter oedema en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3789585010 CLCN2 (chloride voltage-gated channel 2) related leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3789586011 Leucoencephalopathy with ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404739018 A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404740016 A rare neurologic disease characterised by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility. 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
CLCN2-related leukoencephalopathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
CLCN2-related leukoencephalopathy	Is a	Leukoencephalopathy	true	Inferred relationship	Some
CLCN2-related leukoencephalopathy	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
CLCN2-related leukoencephalopathy	Is a	Cerebellar ataxia	true	Inferred relationship	Some
CLCN2-related leukoencephalopathy	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
CLCN2-related leukoencephalopathy	Finding site	Cerebral white matter structure	true	Inferred relationship	Some	2
CLCN2-related leukoencephalopathy	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3686396018	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686397010	CLCN2-related leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686398017	Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686399013	Leukoencephalopathy with ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686401019	CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789583015	CLCN2-related leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789584014	Leucoencephalopathy with mild cerebellar ataxia and white matter oedema	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789585010	CLCN2 (chloride voltage-gated channel 2) related leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789586011	Leucoencephalopathy with ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404739018	A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404740016	A rare neurologic disease characterised by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core