Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2013. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
2967344018 | Congenital hypoplasia of brain | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
2967369018 | Congenital hypoplasia of brain (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5878951000241112 | hypoplasie congénitale de l'encéphale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Congenital hypoplasia of part of brain | Is a | True | Congenital hypoplasia of brain | Inferred relationship | Some | |
Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986. | Is a | True | Congenital hypoplasia of brain | Inferred relationship | Some |
This concept is not in any reference sets