Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 6156335013 | Marbach Rustad progeroid syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156336014 | LEMD2 gene associated nuclear envelopathy with early progeroid appearance | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156337017 | Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6156338010 | Wormian bones, micrognathia, abnormal dentition, progeroid syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6156339019 | A rare multiple congenital anomalies/dysmorphic syndrome characterized by progeroid appearance (with triangular face, prominent eyes, crooked nose, septum deviation, micrognathia, dental crowding, supernumerary teeth and delayed dentition), microcephaly, skeletal features including wormian bones and hypoplastic clavicles, generalized lipoatrophy, thin skin, prominent veins and intention tremor. Additional clinical features may include developmental delay, short stature and low bone density. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156340017 | A rare multiple congenital anomalies/dysmorphic syndrome characterised by progeroid appearance (with triangular face, prominent eyes, crooked nose, septum deviation, micrognathia, dental crowding, supernumerary teeth and delayed dentition), microcephaly, skeletal features including wormian bones and hypoplastic clavicles, generalised lipoatrophy, thin skin, prominent veins and intention tremor. Additional clinical features may include developmental delay, short stature and low bone density. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Disorder of skull (disorder) | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Premature aging syndrome (disorder) | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Metabolic bone disease | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Wormian bone of cranium (finding) | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Finding site | Structure of wormian bone | true | Inferred relationship | Some | 3 | |
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Finding site | Bone structure of mandible | true | Inferred relationship | Some | 2 | |
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 2 | |
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 4 | |
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Congenital micrognathism | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Is a | Congenital anomaly of tooth (disorder) | true | Inferred relationship | Some | ||
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 1 | |
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR