Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4636757018 | Multiple carboxylase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4636758011 | Multiple carboxylase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4636964014 | A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4636974012 | A group of inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Multiple carboxylase deficiency | Is a | Specific enzyme deficiency | true | Inferred relationship | Some | ||
| Multiple carboxylase deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Multiple carboxylase deficiency | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Multiple carboxylase deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Multiple carboxylase deficiency | Is a | Disorder of amino acid and organic acid metabolism | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Biotinidase deficiency | Is a | True | Multiple carboxylase deficiency | Inferred relationship | Some | |
| Holocarboxylase synthase deficiency | Is a | True | Multiple carboxylase deficiency | Inferred relationship | Some |
This concept is not in any reference sets
FHIR