Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5159717013 | Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5159718015 | EVEN-plus syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5159719011 | Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5159720017 | EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5159725010 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5159726011 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5784721000052117 | EVEN-plussyndromet | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Congenital anomaly of nose | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Congenital malformation of ear | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Finding of vertebra | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Disorder of vertebral column (disorder) | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Congenital anomaly of spine | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Finding site | Bone structure of vertebra | true | Inferred relationship | Some | 1 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Finding site | Structure of epiphysis | true | Inferred relationship | Some | 2 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Finding site | Ear structure | true | Inferred relationship | Some | 3 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Finding site | Nasal structure | true | Inferred relationship | Some | 4 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Chronic disease of ear | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Is a | Epiphyseal dysplasia | true | Inferred relationship | Some | ||
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets