Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3766826014 | Cobblestone lissencephaly without muscular or ocular involvement (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766827017 | Lissencephaly type 2 without muscular or ocular involvement | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766828010 | Cobblestone lissencephaly without muscular or ocular involvement | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766829019 | Cobblestone lissencephaly without muscular or eye involvement | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766830012 | Lissencephaly type 2 without muscular or eye involvement | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766831011 | A rare genetic cobblestone lissencephaly disease with characteristics of the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4351261000052119 | lissencefali typ 2 utan muskulär eller okulär involvering | 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 |
| Cobblestone lissencephaly without muscular or ocular involvement (disorder) | Is a | Type 2 lissencephaly | true | Inferred relationship | Some | ||
| Cobblestone lissencephaly without muscular or ocular involvement (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cobblestone lissencephaly without muscular or ocular involvement (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cobblestone lissencephaly without muscular or ocular involvement (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Cobblestone lissencephaly without muscular or ocular involvement (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cobblestone lissencephaly without muscular or ocular involvement (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Cobblestone lissencephaly without muscular or ocular involvement (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cobblestone lissencephaly without muscular or ocular involvement (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR