Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4009632013 | 3q23 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4009633015 | Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4009634014 | Blepharophimosis epicanthus inversus ptosis syndrome plus | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5244189016 | BPES (blepharophimosis epicanthus inversus ptosis syndrome) plus | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 11963711000146115 | 3q23-microdeletiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 11963721000146113 | syndroom van blefarofimose, epicanthus inversus en ptosis plus | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 11963731000146110 | syndroom van blefarofimose, epicanthus inversus en ptosis plus (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4009630017 | Blepharophimosis epicanthus inversus ptosis due to 3q23 microdeletion is a form of blepharophimosis epicanthus inversus ptosis syndrome (BPES), which in addition to the classical eyelids features of BPES, presents with genitourinary anomalies, spastic diplegia and speech delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | true | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Structure of palpebral fissure | true | Inferred relationship | Some | 1 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Narrowed structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Deletion of part of long arm of chromosome 3 (disorder) | true | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Deformity of eyelid (disorder) | false | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Congenital anomaly of skin | false | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Congenital deformity of face (disorder) | false | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Is a | Congenital blepharophimosis | false | Inferred relationship | Some | ||
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Chromosome pair 3 | true | Inferred relationship | Some | 2 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Deformity | true | Inferred relationship | Some | 3 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Skin structure of epicanthus inversus (body structure) | true | Inferred relationship | Some | 3 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Chromosome pair 3 | false | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Deletion of long arm | false | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Finding site | Upper eyelid structure | true | Inferred relationship | Some | 5 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Associated morphology | Prolapse (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR