Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3452222014 | Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3452223016 | Splenogonadal fusion, limb defect, micrognathia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3452224010 | SGFLD (splenogonadal fusion limb defect syndrome) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3452225011 | Splenogonadal fusion limb defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3452226012 | A rare dysostosis syndrome with characteristics of abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It may also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | true | Inferred relationship | Some | 3 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal structure | true | Inferred relationship | Some | 3 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | true | Inferred relationship | Some | 2 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rate | true | Inferred relationship | Some | 2 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | Abnormally short growth | true | Inferred relationship | Some | 4 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | os de la mandibule | true | Inferred relationship | Some | 1 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | Entire limb | true | Inferred relationship | Some | 4 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 5 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | anomalie morphologique congénitale | false | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 5 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 6 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 6 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 6 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | Congenital micrognathism | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | Splenogonadal fusion | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | Longitudinal deficiency of limb | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | Dysostosis | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | Abnormally short growth | false | Inferred relationship | Some | 9 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | Entire limb | false | Inferred relationship | Some | 9 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 10 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | false | Inferred relationship | Some | 6 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal structure | false | Inferred relationship | Some | 6 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 10 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 10 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | false | Inferred relationship | Some | 7 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | os de la mandibule | false | Inferred relationship | Some | 7 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | false | Inferred relationship | Some | 8 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rate | false | Inferred relationship | Some | 8 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets