Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core
Descriptions:
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) | Is a | True | Bilateral microphthalmos | Inferred relationship | Some | |
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. | Is a | True | Bilateral microphthalmos | Inferred relationship | Some |
This concept is not in any reference sets