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 |
3314770015 | Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314771016 | Uveal coloboma with cleft lip and palate and intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314772011 | This syndrome is characterised by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3314773018 | This syndrome is characterized by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and hematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse de la tête (structure corporelle) | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 3 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 5 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | iris | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | true | Inferred relationship | Some | 3 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | false | Inferred relationship | Some | 5 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | Coloboma of iris | false | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital coloboma of iris (disorder) | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | true | Inferred relationship | Some | 1 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | iris | true | Inferred relationship | Some | 2 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | false | Inferred relationship | Some | 2 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | false | Inferred relationship | Some | 6 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | iris | false | Inferred relationship | Some | 1 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets