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 |
| 3756669018 | Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756670017 | Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756671018 | A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408373018 | A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408374012 | A rare, genetic, primary bone dysplasia disorder characterised by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Deformity of bone | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Congenital anomaly of upper limb | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Disorder of forearm (disorder) | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Congenital deformity | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Bowing of upper limb (finding) | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Spondylometaphyseal dysplasia | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Associated morphology | Bowing deformity | true | Inferred relationship | Some | 2 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Finding site | Structure of bone of forearm (body structure) | true | Inferred relationship | Some | 2 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Congenital bowing of long bone (disorder) | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Congenital deformity of bone of forearm (disorder) | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Is a | Lesion of bone | 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