Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3775341010 | Short chain acyl-CoA dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3775342015 | Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3775344019 | Short chain acyl-coenzyme A dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3775345018 | SCAD - short chain acyl-CoA dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3775346017 | ACADS - short chain acyl-coenzyme A dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3775347014 | A very rare inborn error of mitochondrial fatty acid oxidation with characteristics of variable manifestations ranging from asymptomatic individuals to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. In affected individuals manifestations include seizures, developmental delay (delayed sitting/walking and/or speech/social interaction), failure to grow with poor feeding and usually muscle weakness and hypotonia. Caused by mutations in the acyl-CoA dehydrogenase, C-2 to C-3 short chain ACADS gene (12q24.31) along with additional as yet unidentified precipitating factors. Inherited in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Acyl-CoA dehydrogenase deficiency | true | Inferred relationship | Some | ||
| Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR