Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3431154015 | A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome. The characteristics of this syndrome are progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect and ureteral anomalies. To date 5 unrelated patients have been reported, including one family with multiple affected persons. This syndrome is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes: SULF1 and SLCO5A1. Transmitted as an autosomal dominant trait. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403253011 | A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403254017 | A rare syndromic osteochondrodysplasia characterised by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3431148016 | 8q13 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3431149012 | 8q13 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3431150012 | Mesomelia synostoses syndrome Verloes David Pfeiffer type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3431151011 | Mesomelic dysplasia with acral synostoses Verloes David Pfeiffer type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3431152016 | Monosomy 8q13 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3431153014 | Verloes David syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Is a | 8q partial monosomy syndrome | true | Inferred relationship | Some | ||
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Is a | Acromesomelic dysplasia syndrome | true | Inferred relationship | Some | ||
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 3 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Finding site | Bone structure | true | Inferred relationship | Some | 3 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Finding site | Chromosome pair 8 | false | Inferred relationship | Some | 4 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Finding site | Chromosome pair 8 | false | Inferred relationship | Some | 3 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Associated morphology | Partial monosomy (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Associated morphology | Deletion of long arm | false | Inferred relationship | Some | 4 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 5 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Finding site | Bone structure | false | Inferred relationship | Some | 5 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 2 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 2 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 1 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. | Is a | Developmental hereditary 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)
FHIR