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 |
| 7064061000146112 | methylmalonzuuracidemie door methylmalonyl-CoA-epimerasedeficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8639871000146115 | methylmalonzuuracidemie door deficiëntie van methylmalonyl-co-enzym A-epimerase (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8722911000146119 | methylmalonzuuracidemie door deficiëntie van methylmalonyl-co-enzym A-epimerase | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10027471000146116 | MMA door deficiëntie van methylmalonyl-CoA-epimerase | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3657147017 | A rare inborn error of metabolism disease with characteristics of 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 the disease 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 | ||
| Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR