Combined oxidative phosphorylation defect type 27 1172844009
SNOMED CT code
| SNOMED code | 1172844009 |
|---|---|
| name | Combined oxidative phosphorylation defect type 27 |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Combined oxidative phosphorylation defect type 27 (disorder) |
| synonyms |
|
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| attributes - group1 | |
| Finding site | Brain structure 12738006 |
| Associated morphology | Atrophy 13331008 |
| attributes - group3 | |
| Finding site | Brain structure 12738006 |
| Pathological process | Pathological developmental process 308490002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Combined oxidative phosphorylation defect type 27 1172844009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Neurodevelopmental disorder 700364009 Developmental and epileptic encephalopathy 1275631007 Combined oxidative phosphorylation defect type 27 1172844009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Combined oxidative phosphorylation defect type 27 1172844009 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 27 1172844009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Mitochondrial cytopathy 240096000 Combined oxidative phosphorylation defect type 27 1172844009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Combined oxidative phosphorylation defect type 27 1172844009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Degenerative brain disorder 52522001 Combined oxidative phosphorylation defect type 27 1172844009 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 27 1172844009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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