Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. 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 |
| 3321083013 | A malformation disorder with characteristics of complete or incomplete absence of nose, choanal atresia, microphthalmia, anophthalmia and cleft or high palate. | en | Definition | Inactive | 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 | Is a | Microphthalmos | false | Inferred relationship | Some | ||
| Arrhinia with choanal atresia and microphthalmia syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | false | Inferred relationship | Some | ||
| Arrhinia with choanal atresia and microphthalmia syndrome | Is a | Congenital absence of nose | false | Inferred relationship | Some | ||
| Arrhinia with choanal atresia and microphthalmia syndrome | Is a | Choanal atresia | false | Inferred relationship | Some | ||
| Arrhinia with choanal atresia and microphthalmia syndrome | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Finding site | Nasal structure | false | Inferred relationship | Some | 3 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 4 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Finding site | Structure of choana (body structure) | false | Inferred relationship | Some | 4 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 5 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Finding site | Entire eye | false | Inferred relationship | Some | 5 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Finding site | Structure of choana (body structure) | false | Inferred relationship | Some | 1 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 1 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Finding site | Entire eye | false | Inferred relationship | Some | 2 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Associated morphology | Absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Finding site | Entire eye proper | false | Inferred relationship | Some | 2 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Associated morphology | Atresia (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Associated morphology | Abnormal smallness (morphologic abnormality) | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR