Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3307279015 | FRAXE intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3307280017 | FRAXE intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3307281018 | Intellectual disability associated with fragile site FRAXE | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5155296014 | FRAXE is a form of nonsyndromic X-linked intellectual disability with characteristic of mild intellectual deficit. The estimated prevalence in the general population is between 1 in 100,000 and 1 in 150,000. FRAXE manifests in individuals with more than 200 CCG repeats in the 5' UTR of the AFF2 gene (Xq28). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3858521000052119 | FRAXE-syndrom med intellektuell funktionsnedsättning | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| FRAXE intellectual disability syndrome (disorder) | Is a | mental retardation | false | Inferred relationship | Some | ||
| FRAXE intellectual disability syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| FRAXE intellectual disability syndrome (disorder) | Is a | Fragile X chromosome | true | Inferred relationship | Some | ||
| FRAXE intellectual disability syndrome (disorder) | Associated morphology | Chromosomal morphology | true | Inferred relationship | Some | 1 | |
| FRAXE intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| FRAXE intellectual disability syndrome (disorder) | Finding site | Sex chromosome X | true | Inferred relationship | Some | 1 | |
| FRAXE intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| FRAXE intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| FRAXE intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| FRAXE intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| FRAXE intellectual disability syndrome (disorder) | Is a | Congenital malformation | true | Inferred relationship | Some | ||
| FRAXE intellectual disability syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| FRAXE intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| FRAXE intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| FRAXE intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| FRAXE intellectual disability syndrome (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