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 |
3498233011 | Auricular abnormality, cleft lip, ocular abnormality syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498234017 | Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5403422011 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403423018 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Is a | Cleft lip | true | Inferred relationship | Some | ||
Auricular abnormality, cleft lip, ocular abnormality syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Auricular abnormality, cleft lip, ocular abnormality syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Finding site | Structure of internal part of mouth | false | Inferred relationship | Some | 3 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Finding site | Lip structure | false | Inferred relationship | Some | 4 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Finding site | Auricular region structure | false | Inferred relationship | Some | 5 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Finding site | Lip structure | true | Inferred relationship | Some | 1 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Finding site | Auricular region structure | true | Inferred relationship | Some | 2 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Finding site | Bone structure of head | false | Inferred relationship | Some | 3 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Auricular abnormality, cleft lip, ocular abnormality syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)