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 |
3317490016 | Gingival fibromatosis with facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3317491017 | Gingival fibromatosis with facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Is a | Hereditary gingival fibromatosis | true | Inferred relationship | Some | ||
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Associated morphology | Fibromatosis | false | Inferred relationship | Some | 3 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Finding site | Gingival structure | false | Inferred relationship | Some | 3 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Associated morphology | Fibromatosis | true | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Finding site | Gingival structure | true | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Gingival fibromatosis with facial dysmorphism syndrome (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set