Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency 765137006
SNOMED CT code
| SNOMED code | 765137006 |
|---|---|
| name | Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency |
| status | active |
| date introduced | 2018-07-31 |
| fully specified name(s) | Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) |
| synonyms |
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| attributes - group2 | |
| Due to | Deficiency of methylmalonyl-coenzyme A epimerase 1293018007 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of organic acid metabolism 116021002 Non-amino organic acidemia AND/OR aciduria 26513001 Methylmalonic acidemia 42393006 Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency 765137006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency 765137006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency 765137006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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