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 |
3321081010 | Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321082015 | Arrhinia with choanal atresia and microphthalmia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321084019 | Arhinia, choanal atresia and microphthalmia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3685724016 | Ruprecht Majewski syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3685725015 | Bosma arhinia microphthalmia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3685726019 | Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3685727011 | BAMS - Bosma arhinia microphthalmia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3685728018 | Gifford Bosma syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3685729014 | Bosma syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402375015 | A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402376019 | A malformation disorder characterised by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Is a | Microphthalmos | true | Inferred relationship | Some | ||
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Is a | Congenital absence of nose | false | Inferred relationship | Some | ||
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Is a | Choanal atresia | true | Inferred relationship | Some | ||
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Finding site | Nasal structure | true | Inferred relationship | Some | 3 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 4 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Finding site | Structure of choana (body structure) | false | Inferred relationship | Some | 4 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 5 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Finding site | Entire eye | false | Inferred relationship | Some | 5 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Finding site | Structure of choana (body structure) | true | Inferred relationship | Some | 1 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 1 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Finding site | Entire eye | false | Inferred relationship | Some | 2 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Finding site | Entire eye proper | true | Inferred relationship | Some | 2 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Associated morphology | Atresia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)