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 |
753391000241112 | déficience intellectuelle liée à l'X type Schimke (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
979461000172112 | déficience intellectuelle liée à l'X type Schimke | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3314660011 | X-linked mental retardation Schimke type has characteristics of intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. | 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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Schimke type (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability Schimke type (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability Schimke type (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
X-linked intellectual disability Schimke type (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked intellectual disability Schimke type (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets