Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 22495011 | Methylcrotonyl-CoA carboxylase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 22496012 | BMCC deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 22497015 | MCC deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 195517016 | beta-Methylcrotonylglycinuria, type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 1220921018 | 3-Methylcrotonyl-CoA carboxylase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2971660018 | Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2971885012 | Methylcrotonyl-coenzyme A carboxylase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3334396012 | An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Methylcrotonyl-CoA carboxylase deficiency | Is a | Non-amino organic acidemia AND/OR aciduria | true | Inferred relationship | Some | ||
| Methylcrotonyl-CoA carboxylase deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Methylcrotonyl-CoA carboxylase deficiency | Is a | Enzymopathy | true | Inferred relationship | Some | ||
| Methylcrotonyl-CoA carboxylase deficiency | Is a | Disorder of branched-chain amino acid metabolism | true | Inferred relationship | Some | ||
| Methylcrotonyl-CoA carboxylase deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Methylcrotonyl-CoA carboxylase deficiency | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Methylcrotonyl-CoA carboxylase deficiency | Is a | Inborn error of metabolism | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR