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 |
| 3423999011 | Ethylmalonic encephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424000013 | Ethylmalonic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424001012 | Disease defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging abnormalities. The disease manifests at birth or in the first few months of life. Caused by mutations in the ETHE1 gene (chromosome 19q13). The disease is inherited in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424002017 | Disease defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging abnormalities. The disease manifests at birth or in the first few months of life. Caused by mutations in the ETHE1 gene (chromosome 19q13). The disease is 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 |
| Ethylmalonic encephalopathy (disorder) | Is a | Disorder of brain (disorder) | true | Inferred relationship | Some | ||
| Ethylmalonic encephalopathy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Ethylmalonic encephalopathy (disorder) | Is a | Inborn error of metabolism | false | Inferred relationship | Some | ||
| Ethylmalonic encephalopathy (disorder) | Is a | Disorder of organic acid metabolism | true | Inferred relationship | Some | ||
| Ethylmalonic encephalopathy (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Ethylmalonic encephalopathy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ethylmalonic encephalopathy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Ethylmalonic encephalopathy (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR