Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3726290016 | Ataxia, photosensitivity, short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3726291017 | Fenton Wilkinson Toselano syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3726292012 | Ataxia, photosensitivity, short stature syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405422014 | A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405423016 | A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by 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 | Entire term case sensitive (core metadata concept) | 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 induced by physical agents | false | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ataxia, photosensitivity, short stature syndrome | Is a | Hereditary ataxia (disorder) | false | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Is a | Intellectual disability | false | 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 (morphologic abnormality) | 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 | false | 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 | false | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Interprets | Intellectual ability (observable entity) | 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 behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Ataxia, photosensitivity, short stature syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Ataxia, photosensitivity, short stature syndrome | Is a | Disorder of skin caused by radiation (disorder) | true | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Has interpretation | Abnormal | true | Inferred relationship | Some | 6 | |
| Ataxia, photosensitivity, short stature syndrome | Is a | Genetic intellectual disability | true | Inferred relationship | Some | ||
| Ataxia, photosensitivity, short stature syndrome | Interprets | Body height (observable entity) | true | Inferred relationship | Some | 3 | |
| Ataxia, photosensitivity, short stature syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR