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 |
6719751000146110 | syndroom van doofheid, onychodystrofie, osteodystrofie en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6835311000146118 | DOOR-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6938841000146111 | syndroom van autosomaal recessieve doofheid en dystrophia unguium | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7494911000146116 | syndroom van doofheid, onychodystrofie, osteodystrofie en verstandelijke beperking (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7719161000146113 | syndroom van doofheid, onychodystrofie, osteodystrofie en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7857961000146110 | syndroom van doofheid, onychodystrofie, osteodystrofie en verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
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 |
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 | mentale retardatie | 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 | observatie betreffende functioneren | 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 | congenitale dysplasie (afwijkende morfologie) | 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 | structuur van unguis (lichaamsstructuur) | false | Inferred relationship | Some | 9 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | 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 | congenitale dysplasie (afwijkende morfologie) | 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