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 |
8849015 | Inherited disorder of folate metabolism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
784433018 | Inherited disorder of folate metabolism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Inherited disorder of folate metabolism | Is a | Disorder of organic acid metabolism | true | Inferred relationship | Some | ||
Inherited disorder of folate metabolism | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
Inherited disorder of folate metabolism | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Inherited disorder of folate metabolism | Finding site | Body system structure | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Methylene THF reductase deficiency AND homocystinuria | Is a | True | Inherited disorder of folate metabolism | Inferred relationship | Some | |
5,10-Methylenetetrahydrofolate reductase deficiency | Is a | True | Inherited disorder of folate metabolism | Inferred relationship | Some | |
Glutamate formiminotransferase deficiency | Is a | True | Inherited disorder of folate metabolism | Inferred relationship | Some | |
Congenital defect of folate absorption (disorder) | Is a | True | Inherited disorder of folate metabolism | Inferred relationship | Some | |
Tetrahydrofolate methyltransferase deficiency | Is a | True | Inherited disorder of folate metabolism | Inferred relationship | Some | |
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome | Is a | True | Inherited disorder of folate metabolism | Inferred relationship | Some |
This concept is not in any reference sets