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 |
3314658014 | X-linked intellectual disability Schimke type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3314659018 | X-linked intellectual disability Schimke type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401913011 | A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401914017 | A rare X-linked syndromic intellectual disability characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. | 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 Schimke type (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
X-linked intellectual disability Schimke type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked intellectual disability Schimke type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
X-linked intellectual disability Schimke type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Schimke type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability Schimke type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability Schimke type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Schimke type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Schimke type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability Schimke type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)