Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3428880016 | Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3428881017 | Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3428882012 | The association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. It has been described in three siblings. The facial dysmorphism includes a narrow and squared forehead, low set and dysplastic ears, a relatively long philtrum, telecanthus, bilateral thick eyebrows and absence of bilateral lower medial eyelashes. The affected patients have no intellectual deficit. The condition seems to be transmitted as an autosomal recessive trait. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Associated morphology | Congenital absence | false | Inferred relationship | Some | 1 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Finding site | Structure of lower lacrimal punctum | true | Inferred relationship | Some | 1 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Associated morphology | Prolapse | true | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Finding site | Upper eyelid structure | true | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Congenital ptosis | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Associated morphology | Absence | true | Inferred relationship | Some | 1 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Partial ablepharon | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Ptosis of eyebrow | false | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Lower lacrimal punctum finding | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Congenital malformation of the eyebrow | false | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Congenital absence of lacrimal drainage structure | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | Dysgenesis of lacrimal punctum | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Associated morphology | Congenital absence | false | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Finding site | Structure of lower lacrimal punctum | false | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Associated morphology | Congenital prolapse | false | Inferred relationship | Some | 3 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Finding site | Eyebrow structure | false | Inferred relationship | Some | 3 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Finding site | Eyebrow structure | false | 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
FHIR