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 |
| 5401934016 | A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401935015 | A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR