Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3313636016 | X-linked intellectual disability Shrimpton type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314368014 | X-linked intellectual disability Shrimpton type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314370017 | This syndrome is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314371018 | This syndrome is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability Shrimpton type | Is a | Mental retardation | false | Inferred relationship | Some | ||
| X-linked intellectual disability Shrimpton type | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability Shrimpton type | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability Shrimpton type | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Shrimpton type | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Shrimpton type | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability Shrimpton type | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Shrimpton type | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Shrimpton type | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability Shrimpton type | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR