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


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
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
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
975761000172118 leucoencéphalopathie avec ataxie cérébelleuse modérée et oedème de la substance blanche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1059141000195115 Leukoenzephalopathie mit milder zerebellärer Ataxie und ssdem der weissen Substanz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2366411000195111 Leukoenzephalopathie mit milder zerebellärer Ataxie und Ödem der weissen Substanz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
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. Is a Leukoencephalopathy true Inferred relationship Some
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. Finding site Cerebellar structure true Inferred relationship Some 1
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. Is a Cerebellar ataxia true Inferred relationship Some
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. Is a Hereditary ataxia (disorder) true Inferred relationship Some
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. Finding site Cerebral white matter structure true Inferred relationship Some 2
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. 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)

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