Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755640017 | Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755641018 | Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5405707015 | A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405708013 | A rare, genetic, congenital limb malformation syndrome characterised by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Is a | Finding of bone in hand | true | Inferred relationship | Some | ||
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Is a | Polydactyly of fingers | true | Inferred relationship | Some | ||
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Is a | Hyperphalangy | true | Inferred relationship | Some | ||
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Associated morphology | Deformity | false | Inferred relationship | Some | 3 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Is a | Finding of musculoskeletal structure of finger | true | Inferred relationship | Some | ||
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Is a | Congenital anomaly of toe | true | Inferred relationship | Some | ||
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Is a | Congenital pectus excavatum (disorder) | true | Inferred relationship | Some | ||
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Associated morphology | Deformity | false | Inferred relationship | Some | 2 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 4 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Finding site | Toe structure | true | Inferred relationship | Some | 1 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Finding site | Bone structure of rib | false | Inferred relationship | Some | 2 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Finding site | Bone structure of sternum | false | Inferred relationship | Some | 3 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Finding site | Bone structure of phalanx of finger | true | Inferred relationship | Some | 4 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Associated morphology | Depression deformity (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Finding site | Bone structure of sternum | true | Inferred relationship | Some | 2 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Finding site | Bone structure of rib | true | Inferred relationship | Some | 3 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Associated morphology | Abnormal curvature | true | Inferred relationship | Some | 3 | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) | Is a | Structural abnormality of upper limb bone (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)