| ketoacidose door monocarboxylaattransporter 1-deficiëntie (aandoening) | | ketoacidose door monocarboxylaattransporter 1-deficiëntie | | ketoacidose door MCT1-deficiëntie
| | Ketoacidosis due to monocarboxylate transporter-1 deficiency | | A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition. |
| | Id | 1216941002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 438075 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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