Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304324019 | Maxillonasal dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304325018 | Maxillonasal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304326017 | Binder syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3304327014 | Maxillonasal dysostosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304328016 | Maxillonasal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4611837019 | A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface, with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The pathogenesis remains uncertain, most reported cases were sporadic. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Maxillonasal dysplasia syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Maxillonasal dysplasia syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
Maxillonasal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Maxillonasal dysplasia syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Maxillonasal dysplasia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Maxillonasal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set