Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3428881017 | Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 760151000241118 | syndrome de ptosis-mouvement oculaire supérieur limité-absence de point lacrymal (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 892751000172112 | syndrome de ptosis-mouvement oculaire supérieur limité-absence de point lacrymal | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 1 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | localisation d'une constatation (attribut) | Structure of lower lacrimal punctum (body structure) | true | Inferred relationship | Some | 1 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | morphologie associée (attribut) | Prolapse | true | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | localisation d'une constatation (attribut) | paupière supérieure (structure corporelle) | true | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | Congenital ptosis of upper eyelid | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | Partial ablepharon | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | ptose d'un sourcil | false | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | Lower lacrimal punctum finding | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | Congenital malformation of the eyebrow | false | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | Congenital absence of lacrimal drainage structure (disorder) | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | est un(e) (attribut) | Dysgenesis of lacrimal punctum (disorder) | true | Inferred relationship | Some | ||
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | localisation d'une constatation (attribut) | Structure of lower lacrimal punctum (body structure) | false | Inferred relationship | Some | 2 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | morphologie associée (attribut) | Congenital prolapse | false | Inferred relationship | Some | 3 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | localisation d'une constatation (attribut) | Eyebrow structure (body structure) | false | Inferred relationship | Some | 3 | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) | localisation d'une constatation (attribut) | Eyebrow structure (body structure) | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR