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 |
5402209013 | A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402210015 | A rare multiple congenital anomalies-intellectual disability syndrome characterised by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. | 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 | 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 | Functional observable | 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 | Congenital dysplasia | 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 | Nail structure | false | Inferred relationship | Some | 9 | |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | Associated morphology | Developmental anomaly | 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 | Congenital dysplasia | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)