Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3315129018 | X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
| 3315132015 | X-linked intellectual disability with cerebellar hypoplasia syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3315133013 | OPHN1 syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3315134019 | Oligophrenin-1 syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3315135018 | A rare syndromic form of cerebellar dysgenesis with characteristics of moderate to severe intellectual deficit and cerebellar abnormalities. OPHN1 syndrome is very rare. To date, up to 12 families have been reported. Affected male patients present moderate to severe intellectual disability, hypotonia, severe developmental delay, early-onset complex partial or tonic-clonic seizures, strabismus, dysmetria and occasionally ataxia. Cryptorchidism and genital hypoplasia have been reported. Various mutations including deletions and splice site mutations in the OPHN1 gene (Xq12) have been reported in patients with this syndrome. Transmission appears to follow an X-linked semi-dominant pattern. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Is a | X-linked dominant hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Is a | Congenital cerebellar hypoplasia | true | Inferred relationship | Some | ||
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with cerebellar hypoplasia syndrome | Is a | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR