Deficiency of alpha-ketoglutarate dehydrogenase 733630004
SNOMED CT code
| SNOMED code | 733630004 |
|---|---|
| name | Deficiency of alpha-ketoglutarate dehydrogenase |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Deficiency of alpha-ketoglutarate dehydrogenase (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Central nervous system structure 21483005 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Enzymopathy 78548001 Specific enzyme deficiency 129456006 Deficiency of lyase 124592006 Deficiency of alpha-ketoglutarate dehydrogenase 733630004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Deficiency of alpha-ketoglutarate dehydrogenase 733630004 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Deficiency of alpha-ketoglutarate dehydrogenase 733630004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Deficiency of alpha-ketoglutarate dehydrogenase 733630004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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