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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Disorder of brain (disorder)\...
• \Chronic brain syndrome\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disorder of basal ganglia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Finding of head region\Disorder of basal ganglia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\...
• \Chronic brain syndrome\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disorder of basal ganglia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Metabolic disease\Chronic metabolic disorder\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Chronic disease\Chronic metabolic disorder\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5089118016	MEPAN syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089119012	Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5089120018	DYT29 - dystonia 29	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089121019	Autosomal recessive childhood-onset dystonia DYT29 type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5089122014	Childhood-onset generalized dystonia, optic atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089123016	Childhood-onset generalised dystonia, optic atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
13705351000172113	syndroom van gegeneraliseerde dystonie en opticusatrofie beginnend op kinderleeftijd	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13705361000172110	MEPAN-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
13705371000172118	mitochondrieel enoyl-CoA-reductase-proteïne-geassocieerd neurodegeneratiesyndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13705381000172115	mitochondriaal enoyl-coenzym-A-reductase-eiwit-geassocieerd neurodegeneratiesyndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

Back to Start