Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3302493017 | Isolated lissencephaly type 1 without known genetic defect (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302494011 | Isolated lissencephaly type 1 without known genetic defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302495012 | A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3856231000052118 | isolerad lissencefali typ 1 utan känd genetisk defekt | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Isolated lissencephaly type 1 without known genetic defect (disorder) | Is a | Type 1 lissencephaly | true | Inferred relationship | Some | ||
| Isolated lissencephaly type 1 without known genetic defect (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 2 | |
| Isolated lissencephaly type 1 without known genetic defect (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Isolated lissencephaly type 1 without known genetic defect (disorder) | Finding site | Structure of central nervous system (body structure) | false | Inferred relationship | Some | 2 | |
| Isolated lissencephaly type 1 without known genetic defect (disorder) | Associated morphology | kongenital anomali | false | Inferred relationship | Some | 3 | |
| Isolated lissencephaly type 1 without known genetic defect (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
| Isolated lissencephaly type 1 without known genetic defect (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Isolated lissencephaly type 1 without known genetic defect (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Isolated lissencephaly type 1 without known genetic defect (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Isolated lissencephaly type 1 without known genetic defect (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR