Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3424257011 | Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3424258018 | Macrostomia, preauricular tag, external ophthalmoplegia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3424259014 | Syndrome that combines the features of macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It is described in nine members of a Brazilian family. It is a phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Pathological process | Pathological developmental process | false | Inferred relationship | Some | 1 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Congenital anomaly of skin | false | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Congenital anomaly of face | false | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Finding site | Skin structure of preauricular region | true | Inferred relationship | Some | 1 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Associated morphology | Fibroepithelial polyp | true | Inferred relationship | Some | 1 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Finding site | Structure of internal part of mouth | true | Inferred relationship | Some | 2 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Finding site | Structure of extraocular muscle | true | Inferred relationship | Some | 4 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Interprets | Movement observable | true | Inferred relationship | Some | 5 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Has interpretation | Absent | true | Inferred relationship | Some | 5 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | External ophthalmoplegia | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Neoplasm of skin of ear | false | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Skin tag | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Benign tumour of external ear | false | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Congenital abnormality of oral cavity | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Benign neoplasm of skin of head and neck | false | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Mass of preauricular region | true | Inferred relationship | Some | ||
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Finding site | Structure of nervous system | true | Inferred relationship | Some | 3 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Finding site | Eye region structure | false | Inferred relationship | Some | 4 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Associated morphology | Fibroepithelial polyp | false | Inferred relationship | Some | 4 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Finding site | Skin structure of preauricular region | false | Inferred relationship | Some | 4 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Finding site | Structure of internal part of mouth | false | Inferred relationship | Some | 5 | |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome | Is a | Benign neoplasm of skin of face | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Neoplasm and/or hamartoma reference set
Problem/Diagnosis reference set