Mitochondrial DNA depletion syndrome encephalomyopathic form 765401006
SNOMED CT code
| SNOMED code | 765401006 |
|---|---|
| name | Mitochondrial DNA depletion syndrome encephalomyopathic form |
| status | active |
| date introduced | 2018-07-31 |
| fully specified name(s) | Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) |
| synonyms |
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| attributes - group1 | |
| Finding site | Brain structure 12738006 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Finding site | Skeletal muscle structure 127954009 |
| Occurrence | Congenital 255399007 |
| parents | |
| children |
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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 DNA depletion syndrome encephalomyopathic form 765401006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of pyruvate metabolism and mitochondrial respiratory chain 237981000 Disorder of mitochondrial respiratory chain complexes 237986005 Depletion of mitochondrial DNA 237995002 Mitochondrial DNA depletion syndrome encephalomyopathic form 765401006 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Mitochondrial DNA depletion syndrome encephalomyopathic form 765401006 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Disorder of brain 81308009 Mitochondrial encephalomyopathy 447292006 Mitochondrial DNA depletion syndrome encephalomyopathic form 765401006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Mitochondrial DNA depletion syndrome encephalomyopathic form 765401006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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