Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3321966019 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321967011 | DOORS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322719010 | Autosomal recessive deafness onychodystrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322824019 | DOOR syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322825018 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322826017 | A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3896501000052116 | DOOR-syndrom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Sensorineural hearing loss | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Dystrophia unguium | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | mental retardation | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Hearing loss associated with syndrome | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Ectodermal dysplasia with nail defect | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Congenital osteodystrophy | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 6 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Interprets | observabel som rör funktion | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 7 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 7 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | Dystrophy | false | Inferred relationship | Some | 8 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 8 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | Dystrophy | false | Inferred relationship | Some | 9 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | nagel, struktur | false | Inferred relationship | Some | 9 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 10 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 10 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 3 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Is a | Deafness with onychodystrophy syndrome | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Nail unit structure | true | Inferred relationship | Some | 3 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 5 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Skin appendage structure | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 7 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 8 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 6 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets