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 |
758491000241113 | syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
973631000172117 | syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
989511000172116 | syndrome de Graham-Cox | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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) | survenue (attribut) | congénital | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | iris | true | Inferred relationship | Some | 2 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | os de la mandibule | true | Inferred relationship | Some | 3 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | Entire corpus callosum | true | Inferred relationship | Some | 1 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | morphologie associée (attribut) | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | agénésie du corps calleux (trouble) | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Coloboma of iris | false | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Congenital micrognathism | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 5 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | iris | false | Inferred relationship | Some | 5 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | Entire corpus callosum | false | Inferred relationship | Some | 4 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | os de la mandibule | false | Inferred relationship | Some | 6 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Congenital coloboma of iris (disorder) | true | Inferred relationship | Some | ||
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | iris | false | Inferred relationship | Some | 1 | |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets