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 |
3724082014 | Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3724083016 | Macroblepharon, ectropion, hypertelorism, macrostomia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3724084010 | Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
6670491000146117 | syndroom van mandibulofaciale dysostose, macroblepharon en macrostomie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6670501000146110 | syndroom van mandibulofaciale dysostose, macroblepharon en macrostomie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6670511000146112 | syndroom van dysostosis mandibulofacialis, macroblepharon en macrostomie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6670521000146119 | syndroom van macroblepharon, ectropion, hypertelorisme en macrostomie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
8407011000146118 | syndroom van mandibulofaciale dysostosis, te ruime oogspleet en abnormaal grote mondomvang | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3724085011 | A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary haemangioma. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3724086012 | A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Is a | Hypertelorism | true | Inferred relationship | Some | ||
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Finding site | Sphenoid bone structure | false | Inferred relationship | Some | 2 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Is a | Lesion of face | false | Inferred relationship | Some | ||
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Is a | Congenital anomaly of face bones | true | Inferred relationship | Some | ||
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Is a | Sphenoidal dysostosis | true | Inferred relationship | Some | ||
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Finding site | Bone structure of face | false | Inferred relationship | Some | 1 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Finding site | Bone structure of face | true | Inferred relationship | Some | 2 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Finding site | Sphenoid bone structure | true | Inferred relationship | Some | 1 | |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | Is a | Congenital facial dysplasia (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets