Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form 1231309005
SNOMED CT code
| SNOMED code | 1231309005 |
|---|---|
| name | Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form |
| status | active |
| date introduced | 2022-06-30 |
| fully specified name(s) | Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) |
| synonyms | Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| parents | |
| children | TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form 703527003 |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Mitochondrial cytopathy 240096000 Mitochondrial myopathy 16851005 Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form 1231309005 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 deoxyribonucleic acid depletion syndrome myopathic form 1231309005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form 1231309005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of pyrimidine metabolism 85444005 Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form 1231309005 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 deoxyribonucleic acid depletion syndrome myopathic form 1231309005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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