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 |
| 3314677011 | X-linked intellectual disability Cantagrel type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314678018 | X-linked intellectual disability Cantagrel type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314679014 | Characterized by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314680012 | Characterised by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastrooesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 955821000172119 | déficience intellectuelle liée à l'X type Cantagrel | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 883301000172117 | intellectuele achterstand, X-gebonden, Cantagrel-type | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability Cantagrel type (disorder) | Is a | retard mental | false | Inferred relationship | Some | ||
| X-linked intellectual disability Cantagrel type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability Cantagrel type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cantagrel type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Cantagrel type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cantagrel type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cantagrel type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Cantagrel type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Cantagrel type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability Cantagrel type (disorder) | 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