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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402205019 | A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402206018 | A very rare syndrome characterised by the association of gingival fibromatosis and craniofacial dysmorphism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Is a | Hereditary gingival fibromatosis (disorder) | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Finding site | Face structure | false | Inferred relationship | Some | 2 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Associated morphology | Fibromatosis | false | Inferred relationship | Some | 3 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Finding site | Gingival structure | false | Inferred relationship | Some | 3 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Associated morphology | Fibromatosis | true | Inferred relationship | Some | 2 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Finding site | Gingival structure | true | Inferred relationship | Some | 2 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. | 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
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR