Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323371014 | Short tarsus with absence of lower eyelashes syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3323372019 | Short tarsus with absence of lower eyelashes syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3323373012 | Lopes Gorlin syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3323374018 | A very rare syndrome with the association of thin and short upper and lower tarsus and absence of the lower eyelashes. It has been described in 11 patients from a four-generation family. There is no other unusual feature. Inheritance is autosomal dominant. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Short tarsus with absence of lower eyelashes syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Short tarsus with absence of lower eyelashes syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Short tarsus with absence of lower eyelashes syndrome | Associated morphology | Congenital absence | false | Inferred relationship | Some | 1 | |
Short tarsus with absence of lower eyelashes syndrome | Finding site | Entire eyelashes | true | Inferred relationship | Some | 1 | |
Short tarsus with absence of lower eyelashes syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Short tarsus with absence of lower eyelashes syndrome | Is a | Congenital alopecia | false | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Is a | Partial ablepharon | false | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Associated morphology | Absence | true | Inferred relationship | Some | 1 | |
Short tarsus with absence of lower eyelashes syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Is a | Longitudinal deficiency of tarsal bone | true | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Is a | Congenital absence of eyelash | true | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Is a | Inherited disorder of connective tissue | false | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Short tarsus with absence of lower eyelashes syndrome | Associated morphology | Congenital absence | false | Inferred relationship | Some | 2 | |
Short tarsus with absence of lower eyelashes syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Short tarsus with absence of lower eyelashes syndrome | Finding site | Entire eyelashes | false | Inferred relationship | Some | 2 | |
Short tarsus with absence of lower eyelashes syndrome | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 3 | |
Short tarsus with absence of lower eyelashes syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Short tarsus with absence of lower eyelashes syndrome | Finding site | Entire tarsal bone | false | Inferred relationship | Some | 3 | |
Short tarsus with absence of lower eyelashes syndrome | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 2 | |
Short tarsus with absence of lower eyelashes syndrome | Finding site | Entire tarsal bone | 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
Musculoskeletal finding reference set
Problem/Diagnosis reference set