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 |
| 3318421011 | Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318429013 | Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318430015 | Tricho-retino-dento-digital syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318431016 | Bork syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318432011 | An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia and associated with early-onset cataract, retinal pigmentary dystrophy and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 1 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | localisation d'une constatation (attribut) | dent (structure corporelle) | true | Inferred relationship | Some | 3 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 2 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | est un(e) (attribut) | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 2 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 2 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR