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) | est un(e) (attribut) | Acyl-CoA dehydrogenase deficiency | true | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | est un(e) (attribut) | Glutaric aciduria, type 2 | false | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | est un(e) (attribut) | Neonatal disorder | false | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | est un(e) (attribut) | trouble métabolique aigu | true | Inferred relationship | Some | ||
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | survenue (attribut) | néonatal | true | Inferred relationship | Some | 1 | |
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | évolution clinique (attribut) | Transitory | true | Inferred relationship | Some | 2 | |
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) | est un(e) (attribut) | Neonatal metabolic disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR