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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 4 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | 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) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Deafness with onychodystrophy syndrome | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Nail unit structure | true | Inferred relationship | Some | 3 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 5 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Skin appendage structure | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 6 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 5 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | onychodystrophie | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Ectodermal dysplasia with nail defect | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital osteodystrophy | true | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 6 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 10 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 7 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 7 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | false | Inferred relationship | Some | 8 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 8 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | false | Inferred relationship | Some | 9 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Nail structure | false | Inferred relationship | Some | 9 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 10 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 10 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets