Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3726290016 | Ataxia, photosensitivity, short stature syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3726291017 | Fenton Wilkinson Toselano syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3726292012 | Ataxia, photosensitivity, short stature syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3726293019 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ataxia, photosensitivity, short stature syndrome | Causative agent | Light | true | Inferred relationship | Some | 2 | |
| Ataxia, photosensitivity, short stature syndrome | Is a | Disorders of skin caused by physical agents | true | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ataxia, photosensitivity, short stature syndrome | Is a | Hereditary ataxia | false | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Is a | Photosensitivity | true | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Ataxia, photosensitivity, short stature syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ataxia, photosensitivity, short stature syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Ataxia, photosensitivity, short stature syndrome | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 | |
| Ataxia, photosensitivity, short stature syndrome | Is a | Ataxia | true | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
| Ataxia, photosensitivity, short stature syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Ataxia, photosensitivity, short stature syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 5 | |
| Ataxia, photosensitivity, short stature syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR