Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3498432015 | Ectodermal dysplasia and sensorineural deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498433013 | Ectodermal dysplasia and sensorineural deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
6215971000146110 | ectodermale dysplasie-sensorineurale doofheid-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6215991000146114 | ectodermale dysplasie-sensorineuraal gehoorverlies-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6674371000146117 | syndroom van ectodermale dysplasie en sensorineurale doofheid | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6674381000146115 | syndroom van ectodermale dysplasie en sensorineurale doofheid (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3499921017 | Syndrome with characteristics of hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ectodermal dysplasia and sensorineural deafness syndrome | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
Ectodermal dysplasia and sensorineural deafness syndrome | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Ectodermal dysplasia and sensorineural deafness syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Ectodermal dysplasia and sensorineural deafness syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Ectodermal dysplasia and sensorineural deafness syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Ectodermal dysplasia and sensorineural deafness syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Ectodermal dysplasia and sensorineural deafness syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Ectodermal dysplasia and sensorineural deafness syndrome | Finding site | Ear structure | false | Inferred relationship | Some | 3 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Interprets | observatie betreffende functioneren | false | Inferred relationship | Some | ||
Ectodermal dysplasia and sensorineural deafness syndrome | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Finding site | Ectoderm structure | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia and sensorineural deafness syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Ectodermal dysplasia and sensorineural deafness syndrome | Is a | Congenital hearing loss (disorder) | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets