Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002
SNOMED CT code
| SNOMED code | 1237514002 |
|---|---|
| name | Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) |
| synonyms |
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| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Finding site | Skeletal muscle structure 127954009 |
| attributes - group1 | |
| Finding site | Cerebellar structure 113305005 |
| Associated morphology | Atrophy 13331008 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| parents |
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| 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 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Mitochondrial cytopathy 240096000 Mitochondrial myopathy 16851005 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Hereditary cerebellar degeneration 37650008 Hereditary cerebellar atrophy 431641000124107 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Cerebellar ataxia 85102008 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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