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

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
3686397010 CLCN2-related leukoencephalopathy en Synonym Active Case sensitive SNOMED CT core
3686398017 Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3686399013 Leukoencephalopathy with ataxia en Synonym Active Case insensitive SNOMED CT core
3686401019 CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy en Synonym Active Case sensitive SNOMED CT core
3789583015 CLCN2-related leucoencephalopathy en Synonym Active Case sensitive SNOMED CT core
3789584014 Leucoencephalopathy with mild cerebellar ataxia and white matter oedema en Synonym Active Case insensitive SNOMED CT core
3789585010 CLCN2 (chloride voltage-gated channel 2) related leucoencephalopathy en Synonym Active Case sensitive SNOMED CT core
3789586011 Leucoencephalopathy with ataxia en Synonym Active Case insensitive SNOMED CT core
4346501000168116 Leukoencephalopathy with mild cerebellar ataxia and white matter oedema en Synonym Active Case insensitive SNOMED Clinical Terms Australian extension
3686402014 A disorder of the white matter of the brain causing neurological problems, which can occur, anytime from childhood to adulthood. Characteristics of the disease include learning disabilities, retinopathy, atrophy of the optic nerves, spasticity, infertility in males, vertigo, tinnitus, hearing loss, paroxysmal kinesigenic dyskinesia and psychiatric disorders. In affected individuals, myelin becomes oedematous causing impaired nerve impulse transmission. Caused by mutations in the CLCN2 gene. Inherited in an autosomal recessive pattern. en Definition Active Case sensitive SNOMED CT core
3686403016 A disorder of the white matter of the brain causing neurological problems, which can occur, anytime from childhood to adulthood. Characteristics of the disease include learning disabilities, retinopathy, atrophy of the optic nerves, spasticity, infertility in males, vertigo, tinnitus, hearing loss, paroxysmal kinesigenic dyskinesia and psychiatric disorders. In affected individuals, myelin becomes edematous causing impaired nerve impulse transmission. Caused by mutations in the CLCN2 gene. Inherited in an autosomal recessive pattern. en Definition Active Case sensitive SNOMED CT core

0 descendants.

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 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

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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