Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3302587011 | Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302589014 | Gurrieri Sammito Bellussi syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3304136018 | Skeletal dysplasia with epilepsy and short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 747571000241112 | syndrome de dysplasie squelettique-épilepsie-petite taille (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 986701000172119 | syndrome de dysplasie squelettique-épilepsie-petite taille | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 988231000172119 | syndrome de Gurrieri-Sammito-Bellussi | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3302590017 | Moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | est un(e) (attribut) | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR