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 |
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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | localisation d'une constatation (attribut) | 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) | survenue (attribut) | congénital | 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) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of macula (disorder) | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | localisation d'une constatation (attribut) | Macula lutea structure | true | Inferred relationship | Some | 3 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | est un(e) (attribut) | Adactyly | false | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | est un(e) (attribut) | Ectodermal dysplasia | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | est un(e) (attribut) | Ectrodactyly | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | est un(e) (attribut) | Hereditary macular dystrophy | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | localisation d'une constatation (attribut) | Macula lutea structure | false | Inferred relationship | Some | 5 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 4 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 7 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | localisation d'une constatation (attribut) | Entire digit | false | Inferred relationship | Some | 7 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets