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 |
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 |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Associated morphology | kongenit lille statur | 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 | A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. | 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