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 |
3332067015 | Ectodermal dysplasia with blindness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332068013 | Ectodermal dysplasia with blindness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332069017 | Syndrome with characteristics of intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3933021000052114 | syndrom med ektodermal dysplasi med blindhet | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | Congenital anomaly of eye | true | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | mental retardation | false | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 7 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Finding site | Eye structure | false | Inferred relationship | Some | 7 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Finding site | Eye structure | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
Ectodermal dysplasia with blindness syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
Ectodermal dysplasia with blindness syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets