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 |
3310517015 | A multiple congenital anomalies syndrome with characteristics of cerebral, ocular, dental, auricular and skeletal anomalies. To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and a girl from Brazil) have been reported. Characteristic features consist of psychomotor delay, cataracts, abnormally shaped teeth (including enamel projections extending from the tips of the cusps), delayed tooth eruption, malformed ears (over folded and crumpled ears), sensorineural hearing loss, short stature with marked epiphyseal dysplasia and an unusual facial phenotype. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401590018 | Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401591019 | Codas syndrome is a multiple congenital anomalies syndrome characterised by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3310447015 | Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3310448013 | Cerebro-oculo-dento-auriculo-skeletal syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3310513016 | CODAS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3310514010 | CODAS (cerebro-oculo-dento-auriculo-skeletal) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. | Associated morphology | dysgenese | false | Inferred relationship | Some | 1 | |
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set