Mitochondrial pyruvate carrier deficiency 1217212009
SNOMED CT code
| SNOMED code | 1217212009 |
|---|---|
| name | Mitochondrial pyruvate carrier deficiency |
| status | active |
| date introduced | 2022-04-30 |
| fully specified name(s) | Mitochondrial pyruvate carrier deficiency (disorder) |
| synonyms | Mitochondrial pyruvate carrier deficiency |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Finding site | Nervous system structure 25087005 |
| 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 Mitochondrial pyruvate carrier deficiency 1217212009 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 Inborn error of pyruvate metabolism 53210006 Mitochondrial pyruvate carrier deficiency 1217212009 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 pyruvate carrier deficiency 1217212009 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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