Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3640229011 | Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3640230018 | COXPD12 - combined oxidative phosphorylation defect type 12 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3640231019 | Combined oxidative phosphorylation defect type 12 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3640232014 | Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3640233016 | A rare genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form has characteristics of delayed psychomotor development, seizures, early-onset hypotonia and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age and temporary high lactate levels, with overall clinical improvement from the second year onward. The disease is caused by homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR