Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424258018 | Macrostomia, preauricular tag, external ophthalmoplegia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13299201000146116 | syndroom van macrostomie, pre-auriculair aanhangsel en externe oftalmoplegie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13299211000146119 | syndroom van macrostomie, pre-auriculair aanhangsel en externe oftalmoplegie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | External ophthalmoplegia | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Neoplasm of skin of ear | false | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Skin tag | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Benign tumor of external ear | false | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Congenital abnormality of oral cavity | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Benign neoplasm of skin of head and neck | false | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Mass of preauricular region (finding) | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 3 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Finding site | Eye region structure (body structure) | false | Inferred relationship | Some | 4 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Associated morphology | Fibroepithelial polyp | false | Inferred relationship | Some | 4 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Finding site | Skin structure of preauricular region | false | Inferred relationship | Some | 4 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Finding site | Structure of internal part of mouth | false | Inferred relationship | Some | 5 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Benign neoplasm of skin of face | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Congenital anomaly of skin | false | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Congenital anomaly of face (disorder) | false | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Finding site | Skin structure of preauricular region | true | Inferred relationship | Some | 1 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Associated morphology | Fibroepithelial polyp | true | Inferred relationship | Some | 1 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Finding site | Structure of internal part of mouth | true | Inferred relationship | Some | 2 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Finding site | Structure of extraocular muscle | true | Inferred relationship | Some | 4 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 5 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 5 | |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Disorder involving the integument of fetus OR newborn | true | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some | ||
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR