Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3317490016 | Gingival fibromatosis with facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3317491017 | Gingival fibromatosis with facial dysmorphism syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3317492012 | A very rare syndrome with the association of gingival fibromatosis and craniofacial dysmorphism. It has been described in two siblings. Craniofacial dysmorphism consists of relative macrocephaly, bushy eyebrows with synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge and high arched palate. The patients have normal intellect.The condition seems to be hereditary, transmitted as an autosomal recessive trait. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Gingival fibromatosis with facial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Gingival fibromatosis with facial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Gingival fibromatosis with facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Gingival fibromatosis with facial dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Gingival fibromatosis with facial dysmorphism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Gingival fibromatosis with facial dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Gingival fibromatosis with facial dysmorphism syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Gingival fibromatosis with facial dysmorphism syndrome | Is a | Hereditary gingival fibromatosis | true | Inferred relationship | Some | ||
Gingival fibromatosis with facial dysmorphism syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome | Finding site | Face structure | false | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome | Associated morphology | Fibromatosis | false | Inferred relationship | Some | 3 | |
Gingival fibromatosis with facial dysmorphism syndrome | Finding site | Gingival structure | false | Inferred relationship | Some | 3 | |
Gingival fibromatosis with facial dysmorphism syndrome | Associated morphology | Fibromatosis | true | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome | Finding site | Gingival structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set