Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4636155017 | Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4636156016 | Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4636157013 | A rare genetic neurometabolic disease with characteristics of global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. The usual presentation is metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Is a | Disorder of mitochondrial respiratory chain complexes | true | Inferred relationship | Some | ||
| Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Is a | Left ventricular myocardial noncompaction cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 | |
| Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Finding site | Structure of myocardium of left ventricle | true | Inferred relationship | Some | 3 | |
| Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Is a | Mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Due to | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR