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 |
3331424015 | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331425019 | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331426018 | Graham Cox syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3331428017 | A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
973631000172117 | syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
989511000172116 | syndrome de Graham-Cox | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
896661000172116 | syndroom van Graham-Cox | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
966181000172110 | agenesie van corpus callosum, intellectuele achterstand, coloboom, micrognathie-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Agenesis of corpus callosum | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Coloboma of iris | false | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Congenital micrognathism | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | retard mental | false | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 5 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Finding site | Iris structure | false | Inferred relationship | Some | 5 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Finding site | Entire corpus callosum | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 6 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Finding site | Bone structure of mandible | false | Inferred relationship | Some | 6 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Congenital coloboma of iris | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Finding site | Iris structure | false | Inferred relationship | Some | 1 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Finding site | Iris structure | true | Inferred relationship | Some | 2 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Finding site | Bone structure of mandible | true | Inferred relationship | Some | 3 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Finding site | Entire corpus callosum | true | Inferred relationship | Some | 1 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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