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 |
| 3755744018 | Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755745017 | Autosomal recessive spondylometaphyseal dysplasia Megarbane type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755746016 | A rare primary bone dysplasia with characteristics of intrauterine growth retardation, pre and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. There is evidence this disease is caused by homozygous mutation in the MAGMAS (PAM16) gene on chromosome 16p13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) | est un(e) (attribut) | Spondylometaphyseal dysplasia | true | Inferred relationship | Some | ||
| Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR