Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3724071018 | Severe neurodegenerative syndrome due to BSCL2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3724072013 | Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3724073015 | Severe neurodegenerative syndrome with lipodystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724074014 | Severe neurodegenerative syndrome with lipodystrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724077019 | A rare genetic neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724078012 | A rare genetic neurodegenerative disorder characterised by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridaemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe neurodegenerative syndrome with lipodystrophy | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Severe neurodegenerative syndrome with lipodystrophy | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Severe neurodegenerative syndrome with lipodystrophy | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Severe neurodegenerative syndrome with lipodystrophy | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Severe neurodegenerative syndrome with lipodystrophy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Severe neurodegenerative syndrome with lipodystrophy | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Severe neurodegenerative syndrome with lipodystrophy | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
| Severe neurodegenerative syndrome with lipodystrophy | Finding site | Subcutaneous fatty tissue | true | Inferred relationship | Some | 1 | |
| Severe neurodegenerative syndrome with lipodystrophy | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Severe neurodegenerative syndrome with lipodystrophy | Is a | Genetic lipodystrophy (disorder) | true | Inferred relationship | Some | ||
| Severe neurodegenerative syndrome with lipodystrophy | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 | |
| Severe neurodegenerative syndrome with lipodystrophy | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR