Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1771685010 | Autosomal chromosomal disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1782769019 | Autosomal chromosomal disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 340451000077119 | anomalie chromosomique autosomique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal chromosomal disorder (disorder) | Is a | Congenital chromosomal disease | false | Inferred relationship | Some | ||
| Autosomal chromosomal disorder (disorder) | Associated morphology | Alteration of chromosome structure | false | Inferred relationship | Some | ||
| Autosomal chromosomal disorder (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Autosomal chromosomal disorder (disorder) | Finding site | Chromosome structure | false | Inferred relationship | Some | 1 | |
| Autosomal chromosomal disorder (disorder) | Associated morphology | anomalie congénitale | false | Inferred relationship | Some | 1 | |
| Autosomal chromosomal disorder (disorder) | Is a | Chromosomal disorder (disorder) | true | Inferred relationship | Some | ||
| Autosomal chromosomal disorder (disorder) | Finding site | Chromosome structure | false | Inferred relationship | Some | ||
| Autosomal chromosomal disorder (disorder) | Finding site | Chromosome structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Autosomal duplication (disorder) | Is a | True | Autosomal chromosomal disorder (disorder) | Inferred relationship | Some | |
| Autosomal aneuploidy (disorder) | Is a | True | Autosomal chromosomal disorder (disorder) | Inferred relationship | Some | |
| Autosomal translocation | Is a | True | Autosomal chromosomal disorder (disorder) | Inferred relationship | Some | |
| Maternal uniparental disomy of chromosome 20 (disorder) | Is a | False | Autosomal chromosomal disorder (disorder) | Inferred relationship | Some | |
| Paternal uniparental disomy of chromosome 20 (disorder) | Is a | False | Autosomal chromosomal disorder (disorder) | Inferred relationship | Some | |
| Uniparental disomy (disorder) | Is a | False | Autosomal chromosomal disorder (disorder) | Inferred relationship | Some | |
| Tetrasomy 5p mosaicism | Is a | False | Autosomal chromosomal disorder (disorder) | Inferred relationship | Some | |
| Tetrasomy 15q (disorder) | Is a | False | Autosomal chromosomal disorder (disorder) | Inferred relationship | Some |
Reference Sets
FHIR