Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 6156365015 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency disorder | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6156366019 | ECHS1D - mitochondrial short-chain enoyl-coenzyme A hydratase 1 deficiency disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156367011 | Mitochondrial short-chain enoyl-coenzyme A hydratase 1 deficiency disorder (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6156368018 | Crotonase deficiency disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6156369014 | Mitochondrial short-chain enoyl-coenzyme A hydratase 1 deficiency disorder | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6156370010 | A rare neurometabolic disorder characterised typically by severe neonatal or early infantile encephalopathy, lactic acidosis and basal ganglia involvement. The majority of patients present with severe developmental delay, hypotonia, dystonia, seizures, failure to thrive, cardiomyopathy, liver steatosis and/or hepatomegaly and sensorineural hearing loss. Optic atrophy and nystagmus may also be present. A subset of patients (mostly with an onset in infancy) may present with a milder phenotype including paroxysmal dystonia, subtle gait abnormalities. In these patients, motor and cognitive development is near normal and usually no major cardiomyopathy, liver failure or severe lactic crises are present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156371014 | A rare neurometabolic disorder characterized typically by severe neonatal or early infantile encephalopathy, lactic acidosis and basal ganglia involvement. The majority of patients present with severe developmental delay, hypotonia, dystonia, seizures, failure to thrive, cardiomyopathy, liver steatosis and/or hepatomegaly and sensorineural hearing loss. Optic atrophy and nystagmus may also be present. A subset of patients (mostly with an onset in infancy) may present with a milder phenotype including paroxysmal dystonia, subtle gait abnormalities. In these patients, motor and cognitive development is near normal and usually no major cardiomyopathy, liver failure or severe lactic crises are present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency disorder | Is a | Disorder of branched-chain amino acid metabolism | true | Inferred relationship | Some | ||
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency disorder | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency disorder | Is a | Inborn error of amino acid metabolism | true | Inferred relationship | Some | ||
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency disorder | Is a | Disorder of brain (disorder) | true | Inferred relationship | Some | ||
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency disorder | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency disorder | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency disorder | Finding site | Brain structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR