Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3305032014 | Alopecia and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3305033016 | Alopecia and intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3305034010 | Perniola Krajewska Carnevale syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3305035011 | An extremely rare syndrome described in less than 20 families to date and has characteristics of total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Alopecia and intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Alopecia and intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Alopecia and intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 3 | |
Alopecia and intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Alopecia and intellectual disability syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 4 | |
Alopecia and intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
Alopecia and intellectual disability syndrome | Is a | Alopecia | true | Inferred relationship | Some | ||
Alopecia and intellectual disability syndrome | Is a | Intellectual disability | false | Inferred relationship | Some | ||
Alopecia and intellectual disability syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Alopecia and intellectual disability syndrome | Associated morphology | Absence | true | Inferred relationship | Some | 1 | |
Alopecia and intellectual disability syndrome | Finding site | Hair structure | true | Inferred relationship | Some | 1 | |
Alopecia and intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set