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 |
| 3314058013 | X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314059017 | X-linked intellectual disability with ataxia and apraxia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 753181000241112 | syndrome d'ataxie-apraxie-déficience intellectuelle lié à l'X (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 945431000172115 | syndrome d'ataxie-apraxie-déficience intellectuelle lié à l'X | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3314060010 | This syndrome has characteristics of ataxia, apraxia, intellectual deficit and or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. | 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 with ataxia and apraxia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | est un(e) (attribut) | Apraxia | true | Inferred relationship | Some | ||
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | est un(e) (attribut) | Cerebellar ataxia | false | Inferred relationship | Some | ||
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | localisation d'une constatation (attribut) | appareil locomoteur | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | localisation d'une constatation (attribut) | structure cérébelleuse | false | Inferred relationship | Some | ||
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) | est un(e) (attribut) | Hereditary ataxia (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR