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 |
3322306013 | Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322307016 | Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322308014 | EEM (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322309018 | EEM syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6593651000146116 | EEM-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6723691000146116 | syndroom van ectodermale dysplasie, ectrodactylie en maculadystrofie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6723701000146116 | syndroom van ectodermale dysplasie, ectrodactylie en maculadystrofie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3322310011 | Syndrome with the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. Appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Is a | Ectrodactyly | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Is a | Hereditary macular dystrophy | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Associated morphology | Dystrophy | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Finding site | Macula lutea structure | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 7 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Finding site | Entire digit | false | Inferred relationship | Some | 7 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Finding site | Entire digit | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Is a | Congenital anomaly of macula | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Finding site | Macula lutea structure | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Is a | Adactyly | false | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets