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 |
| 3726043010 | Deafness with onychodystrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3726044016 | Deafness with onychodystrophy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3726045015 | A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405410011 | Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405411010 | Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterised by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | True | Deafness with onychodystrophy syndrome | Inferred relationship | Some | |
| Autosomal dominant deafness with onychodystrophy syndrome | Is a | True | Deafness with onychodystrophy syndrome | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)