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 |
4002551000052118 | syndrom med splenogonadal fusion, extremitetsdefekt och mikrognati | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | Congenital micrognathism | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | Splenogonadal fusion | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | Longitudinal deficiency of limb | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | Dysostosis | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 9 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Finding site | Entire limb | false | Inferred relationship | Some | 9 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 6 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Finding site | Gonadal structure | false | Inferred relationship | Some | 6 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 10 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 10 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 7 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Finding site | Bone structure of mandible | false | Inferred relationship | Some | 7 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 8 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Finding site | Splenic structure | false | Inferred relationship | Some | 8 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | Congenital abnormal fusion | true | Inferred relationship | Some | 3 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Occurrence | Congenital | 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) | Finding site | 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) | Occurrence | Congenital | 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) | Occurrence | Congenital | 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) | Occurrence | Congenital | 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) | Associated morphology | Congenital abnormal fusion | true | Inferred relationship | Some | 2 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Finding site | Splenic structure | true | Inferred relationship | Some | 2 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 5 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 4 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Finding site | Bone structure of mandible | true | Inferred relationship | Some | 1 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Finding site | Entire limb | true | Inferred relationship | Some | 4 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 5 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | Congenital deformity | false | Inferred relationship | Some | ||
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 5 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Finding site | Face structure | 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) | 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