Combined oxidative phosphorylation defect type 30 1172841001
SNOMED CT code
| SNOMED code | 1172841001 |
|---|---|
| name | Combined oxidative phosphorylation defect type 30 |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Combined oxidative phosphorylation defect type 30 (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Finding site | Nervous system structure 25087005 |
| attributes - group3 | |
| Finding site | Skeletal muscle structure 127954009 |
| 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 Combined oxidative phosphorylation defect type 30 1172841001 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 Combined oxidative phosphorylation defect type 30 1172841001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Mitochondrial cytopathy 240096000 Combined oxidative phosphorylation defect type 30 1172841001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Combined oxidative phosphorylation defect type 30 1172841001 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Combined oxidative phosphorylation defect type 30 1172841001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Combined oxidative phosphorylation defect type 30 1172841001 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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