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 |
12109091000172116 | syndrome de déficience intellectuelle associée au site fragile FRAXE (fragile X E) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
12109101000172112 | syndrome de déficience intellectuelle FRAXE (fragile X E) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5132911000172111 | syndroom van FRAXE en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5132921000172118 | syndroom van FRAXE en mentale retardatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5132931000172115 | FRAXE-syndroom en verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
FRAXE intellectual disability syndrome (disorder) | Is a | retard mental | 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