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) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Is a | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 3 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 5 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Finding site | Iris structure | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 3 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Finding site | Lip structure | false | Inferred relationship | Some | 5 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Is a | Coloboma of iris | false | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Is a | Congenital coloboma of iris | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Finding site | Lip structure | true | Inferred relationship | Some | 1 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Finding site | Iris structure | true | Inferred relationship | Some | 2 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 2 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Finding site | Lip structure | false | Inferred relationship | Some | 6 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Finding site | Iris structure | false | Inferred relationship | Some | 1 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
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) | Associated morphology | 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) | Is a | 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) | Finding site | Bone structure of head | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets