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 |
3332241017 | Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332242012 | Macular coloboma, cleft palate, hallux valgus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332243019 | Syndrome with the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Congenital anomaly of macula | false | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Congenital hallux valgus | true | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Cleft palate | true | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Congenital ocular coloboma (disorder) | false | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Interprets | Form of toes | false | Inferred relationship | Some | 4 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Associated morphology | kongenit manglende sammenvoksning | false | Inferred relationship | Some | 4 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Associated morphology | kongenit valgusdeformitet | false | Inferred relationship | Some | 5 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Finding site | First metatarsophalangeal joint structure | false | Inferred relationship | Some | 5 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Associated morphology | kongenit manglende sammenvoksning | false | Inferred relationship | Some | 6 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 4 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Finding site | Macula lutea structure | false | Inferred relationship | Some | 6 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 1 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Finding site | Macula lutea structure | true | Inferred relationship | Some | 2 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Congenital coloboma of macula lutea | true | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Finding site | First metatarsophalangeal joint structure | true | Inferred relationship | Some | 3 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Associated morphology | Valgus deformity | true | Inferred relationship | Some | 3 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Congenital anomaly of bone and joint | false | Inferred relationship | Some | ||
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 4 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets