MEPAN syndrome 1236805005
SNOMED CT code
| SNOMED code | 1236805005 |
|---|---|
| name | MEPAN syndrome |
| status | active |
| date introduced | 2022-07-31 |
| fully specified name(s) | Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) |
| synonyms |
|
| attributes - group3 | |
| Interprets | Movement 255324009 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Finding site | Basal ganglion structure 32610002 |
| attributes - group1 | |
| Finding site | Optic nerve structure 18234004 |
| Associated morphology | Primary atrophy 68616007 |
| attributes - group5 | |
| Clinical course | Chronic persistent 62459000 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 MEPAN syndrome 1236805005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic metabolic disorder 128289001 MEPAN syndrome 1236805005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Mitochondrial cytopathy 240096000 MEPAN syndrome 1236805005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Inherited optic neuropathy 312942003 Hereditary optic atrophy 26360005 MEPAN syndrome 1236805005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of movement 298325004 Movement disorder 60342002 Extrapyramidal disease 76349003 Dystonia 15802004 Generalized dystonia 425492002 MEPAN syndrome 1236805005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Disorder of basal ganglia 70835005 MEPAN syndrome 1236805005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 MEPAN syndrome 1236805005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 MEPAN syndrome 1236805005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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