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 |
| 3447535016 | Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3447536015 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3447537012 | LCHADD - long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3447538019 | Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3447539010 | A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy or early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. Caused by the isolated deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase, an enzyme of the mitochondrial trifunctional protein complex (TFP). TFP is a heterooctamer of 4 alpha and 4 beta subunits. The disease is due to mutations in the HADHA gene (2p23) that encodes for the alpha subunit of TFP. Mitochondrial trifunctional protein deficiency is clinically indistinguishable from this disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3447540012 | A mitochondrial disorder of long chain fatty acid oxidation characterised in most patients by onset in infancy or early childhood with hypoketotic hypoglycaemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. Caused by the isolated deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase, an enzyme of the mitochondrial trifunctional protein complex (TFP). TFP is a heterooctamer of 4 alpha and 4 beta subunits. The disease is due to mutations in the HADHA gene (2p23) that encodes for the alpha subunit of TFP. Mitochondrial trifunctional protein deficiency is clinically indistinguishable from this disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Disorder of fatty acid metabolism | false | Inferred relationship | Some | ||
| Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Fatty acid oxidation defect (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR