Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755100012 | Distal monosomy 4q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755101011 | Distal deletion 4q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755102016 | Distal monosomy 4q (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755103014 | Telomeric deletion 4q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755104015 | A partial autosomal monosomy with characteristics of a variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4358761000052116 | distal monosomi 4q | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal monosomy 4q | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal monosomy 4q | Finding site | Chromosome pair 4 | true | Inferred relationship | Some | 2 | |
| Distal monosomy 4q | Is a | 4q partial monosomy syndrome | true | Inferred relationship | Some | ||
| Distal monosomy 4q | Finding site | Chromosome pair 4 | true | Inferred relationship | Some | 1 | |
| Distal monosomy 4q | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal monosomy 4q | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Distal monosomy 4q | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR