Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3643279010 | Craniosynostosis Herrmann Opitz type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3643280013 | Craniosynostosis Herrmann Opitz type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
12686931000146117 | craniosynostose Herrmann-Opitz-type | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12690051000146110 | craniosynostose Herrmann-Opitz-type (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3643277012 | A rare bone development disorder with characteristics of intellectual disability, short stature, turribrachycephaly, facial dysmorphism (severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (including syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Craniosynostosis Herrmann Opitz type (disorder) | Is a | Craniosynostosis syndrome | true | Inferred relationship | Some | ||
Craniosynostosis Herrmann Opitz type (disorder) | Finding site | Bone structure of cranium | false | Inferred relationship | Some | ||
Craniosynostosis Herrmann Opitz type (disorder) | Associated morphology | congenitale premature fusie | false | Inferred relationship | Some | 1 | |
Craniosynostosis Herrmann Opitz type (disorder) | Finding site | Joint structure of suture of skull | true | Inferred relationship | Some | 1 | |
Craniosynostosis Herrmann Opitz type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Craniosynostosis Herrmann Opitz type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Craniosynostosis Herrmann Opitz type (disorder) | Associated morphology | Premature fusion | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets