Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 206413012 | Inherited metabolic disorder of nervous system | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 732153013 | Inherited metabolic disorder of nervous system (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Inherited metabolic disorder of nervous system | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Inherited metabolic disorder of nervous system | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Inherited metabolic disorder of nervous system | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Inherited metabolic disorder of nervous system | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) | Is a | True | Inherited metabolic disorder of nervous system | Inferred relationship | Some | |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Is a | True | Inherited metabolic disorder of nervous system | Inferred relationship | Some | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | Is a | True | Inherited metabolic disorder of nervous system | Inferred relationship | Some | |
| MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome | Is a | True | Inherited metabolic disorder of nervous system | Inferred relationship | Some |
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Reference Sets
FHIR