733452000: Leukoencephalopathy, dystonia, motor neuropathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Finding of head region\Leukoencephalopathy\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Leukoencephalopathy, dystonia, motor neuropathy syndrome
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Leukoencephalopathy, dystonia, motor neuropathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3499457015	Leukoencephalopathy, dystonia, motor neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499458013	Leukoencephalopathy, dystonia, motor neuropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789578011	Leucoencephalopathy, dystonia, motor neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3500000018	A peroxisomal neurodegenerative disorder with characteristics of spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotropic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. There is evidence this disease is caused by homozygous mutation in the SCP2 gene on chromosome 1p32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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