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 | 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 | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | est un(e) (attribut) | déformation d'un os | 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 | est un(e) (attribut) | 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 | est un(e) (attribut) | Disorder of forearm (disorder) | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | est un(e) (attribut) | anomalie morphologique congénitale | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | est un(e) (attribut) | Bowing of upper limb (finding) | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | est un(e) (attribut) | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | est un(e) (attribut) | Spondylometaphyseal dysplasia | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | morphologie associée (attribut) | Bowing deformity | true | Inferred relationship | Some | 2 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | localisation d'une constatation (attribut) | Structure of bone of forearm (body structure) | true | Inferred relationship | Some | 2 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | est un(e) (attribut) | Congenital bowing of long bone (disorder) | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | est un(e) (attribut) | Congenital deformity of bone of forearm (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR