1236805005: Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Generalised dystonia\MEPAN syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\MEPAN syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Generalised dystonia\MEPAN syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of basal ganglia\MEPAN syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\MEPAN syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Generalised dystonia\MEPAN syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\MEPAN syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\MEPAN syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\MEPAN syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\MEPAN syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Chronic brain syndrome\MEPAN syndrome
• \Extrapyramidal disease\Dystonia\Generalised dystonia\MEPAN syndrome
• \Disorder of basal ganglia\MEPAN syndrome
• \Finding of head region\Disorder of basal ganglia\MEPAN syndrome
• \Disorder of head\Encephalopathy\...
• \Chronic brain syndrome\MEPAN syndrome
• \Extrapyramidal disease\Dystonia\Generalised dystonia\MEPAN syndrome
• \Disorder of basal ganglia\MEPAN syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\MEPAN syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\MEPAN syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\MEPAN syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\MEPAN syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Generalised dystonia\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\MEPAN syndrome
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\MEPAN syndrome
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Generalised dystonia\MEPAN syndrome
• \Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\MEPAN syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\MEPAN syndrome
• \Disease\Metabolic disease\Mitochondrial cytopathy\MEPAN syndrome
• \Disease\Metabolic disease\Chronic metabolic disorder\MEPAN syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\MEPAN syndrome
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Generalised dystonia\MEPAN syndrome
• \Disease\Chronic disease\Chronic metabolic disorder\MEPAN syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\MEPAN syndrome

Status: current, Primitive. Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5089117014	Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5089118016	MEPAN syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5089119012	Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5089120018	DYT29 - dystonia 29	en	Synonym	Active	Case sensitive	SNOMED CT core
5089121019	Autosomal recessive childhood-onset dystonia DYT29 type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5089122014	Childhood-onset generalized dystonia, optic atrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5089123016	Childhood-onset generalised dystonia, optic atrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5089126012	A rare genetic neurological disorder with characteristics of childhood-onset dystonia with distinctive MRI changes in the basal ganglia and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria or nystagmus among others. Motor disability progresses gradually, while cognitive function is relatively spared.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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