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 |
| 3304769010 | Upper limb defect with eye and ear abnormalities syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304770011 | Upper limb defect with eye and ear abnormalities syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6731341000146116 | syndroom van defect van bovenste ledemaat en oog- en oorafwijkingen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6925621000146112 | syndroom van defect van bovenste ledemaat en afwijkingen aan oog en oor | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6925631000146114 | syndroom van defect van bovenste ledemaat en afwijkingen aan oog en oor (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3304771010 | This syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. This syndrome has been reported in two siblings. The inheritance is probably autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Is a | Congenital anomaly of eye | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Is a | Congenital malformation of ear | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Finding site | Eye structure | false | Inferred relationship | Some | 3 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Finding site | Eye structure | true | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Finding site | Ear structure | true | Inferred relationship | Some | 1 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR