Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3657144012 | Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657145013 | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657146014 | Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657148010 | Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657149019 | Methylmalonic acidaemia due to methylmalonyl-CoA racemase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657150019 | Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3657151015 | Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5316189013 | MCEE-gene related methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5316190016 | MCEE-gene related methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404482016 | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404483014 | Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) | Is a | Methylmalonic acidemia | true | Inferred relationship | Some | ||
| Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) | Due to | Deficiency of methylmalonyl-coenzyme A epimerase (disorder) | true | Inferred relationship | Some | 2 | |
| Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) | Is a | Inborn error of metabolism | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR