Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5033749012 | Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5033750012 | Ketoacidosis due to monocarboxylate transporter-1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5033751011 | A rare disorder of ketone body transport characterised 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. Hypoglycaemia 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5033752016 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) | Is a | Metabolic disorder of transport | true | Inferred relationship | Some | ||
| Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) | Is a | Ketoacidosis | true | Inferred relationship | Some | ||
| Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR