Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323017014 | Calderón González Cantu syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3330082015 | Hair defect with photosensitivity and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3330083013 | Hair defect with photosensitivity and intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3323018016 | Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hair defect with photosensitivity and intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Hair defect with photosensitivity and intellectual disability syndrome | Finding site | Hair structure | true | Inferred relationship | Some | 1 | |
Hair defect with photosensitivity and intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hair defect with photosensitivity and intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hair defect with photosensitivity and intellectual disability syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Hair defect with photosensitivity and intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Hair defect with photosensitivity and intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 3 | |
Hair defect with photosensitivity and intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Hair defect with photosensitivity and intellectual disability syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 4 | |
Hair defect with photosensitivity and intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
Hair defect with photosensitivity and intellectual disability syndrome | Is a | Congenital anomaly of hair | true | Inferred relationship | Some | ||
Hair defect with photosensitivity and intellectual disability syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Hair defect with photosensitivity and intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hair defect with photosensitivity and intellectual disability syndrome | Is a | Photosensitivity | true | Inferred relationship | Some | ||
Hair defect with photosensitivity and intellectual disability syndrome | Is a | Intellectual disability | false | Inferred relationship | Some | ||
Hair defect with photosensitivity and intellectual disability syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Hair defect with photosensitivity and intellectual disability syndrome | Is a | Disorders of skin caused by physical agents | true | Inferred relationship | Some | ||
Hair defect with photosensitivity and intellectual disability syndrome | Causative agent | Light | true | Inferred relationship | Some | 2 | |
Hair defect with photosensitivity and intellectual disability syndrome | Finding site | Skin structure | false | Inferred relationship | Some | ||
Hair defect with photosensitivity and intellectual disability syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Hair defect with photosensitivity and intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Hair defect with photosensitivity and intellectual disability syndrome | Finding site | Hair structure | false | Inferred relationship | Some | 3 | |
Hair defect with photosensitivity 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