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 |
3723057016 | Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3723058014 | Microcephaly, polymicrogyria, corpus callosum agenesis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3723059018 | A rare genetic central nervous system malformation syndrome with characteristics of marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Is a | Microgyria | true | Inferred relationship | Some | ||
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Is a | Agenesis of corpus callosum | true | Inferred relationship | Some | ||
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Finding site | Structure of gyrus of brain (body structure) | true | Inferred relationship | Some | 1 | |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Finding site | Entire corpus callosum | true | Inferred relationship | Some | 2 | |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 3 | |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets