Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3643031010 | Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3643032015 | Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3643033013 | A developmental anomaly with characteristics as birth of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 3 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 4 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Is a | Right aortic arch | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Associated morphology | Transposition, right | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Finding site | Aortic arch structure | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set