Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3425073016 | Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3425074010 | Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3425075011 | Transient neonatal multiple acyl-CoA dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3425076012 | Transient neonatal glutaric acidemia type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425077015 | Transient neonatal glutaric acidaemia type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425078013 | Transient neonatal glutaric aciduria type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425079017 | Transient neonatal MAD (multiple acyl-coenzyme A dehydrogenase) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3425080019 | A very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425081015 | A very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycaemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Glutaric aciduria, type 2 | false | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Neonatal disorder | false | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Acute metabolic disorder | false | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | Occurrence | Neonatal | true | Inferred relationship | Some | 1 | |
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | Clinical course | Transitory | true | Inferred relationship | Some | 2 | |
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Neonatal metabolic disorder (disorder) | false | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Acyl-CoA dehydrogenase deficiency | true | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Neonatal transient metabolic disturbance (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR