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 |
| 5400882016 | A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400883014 | A rare, genetic dysostosis malformation syndrome characterised by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalised hypotonia and hyper extensible joints. | 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) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| 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) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR