Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5400925016 | Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400926015 | Ophthalmomandibulomelic dysplasia is characterised by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302784019 | Ophthalmomandibulomelic dysplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302785018 | Ophthalmomandibulomelic dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302786017 | Pillay syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302787014 | OMM (ophthalmomandibulomelic) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Associated morphology | dysgenese | false | Inferred relationship | Some | 5 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Is a | Hereditary corneal dystrophy | true | Inferred relationship | Some | ||
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Associated morphology | dysgenese | false | Inferred relationship | Some | 3 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Finding site | Limb structure | true | Inferred relationship | Some | 3 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Associated morphology | Dystrophy | false | Inferred relationship | Some | 4 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Finding site | Corneal structure | false | Inferred relationship | Some | 4 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Finding site | Limb structure | false | Inferred relationship | Some | 5 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Is a | Congenital structural abnormality of cornea | false | Inferred relationship | Some | ||
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. | Is a | Congenital dystrophy of cornea (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR