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 |
| 3323371014 | Short tarsus with absence of lower eyelashes syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323372019 | Short tarsus with absence of lower eyelashes syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323373012 | Lopes Gorlin syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 897101000172112 | syndrome de Lopes-Gorlin | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 967041000172116 | syndrome de tarses palpébraux courts-absence de cils inférieurs | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Longitudinal deficiency of tarsal bone | true | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Congenital absence of eyelash | true | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Finding site | Entire eyelashes | false | Inferred relationship | Some | 2 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 3 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Finding site | Entire tarsal bone | false | Inferred relationship | Some | 3 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 2 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Finding site | Entire tarsal bone | true | Inferred relationship | Some | 2 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Finding site | Entire eyelashes | true | Inferred relationship | Some | 1 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Congenital alopecia | false | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Partial ablepharon | false | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short tarsus with absence of lower eyelashes syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR