Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3642753010 | Distal deletion 9p | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3642754016 | Distal monosomy 9p syndrome (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3642755015 | Distal monosomy 9p | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3642756019 | Distal monosomy 9p syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3642757011 | A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 9. The syndrome has a highly variable phenotype with typical characteristics of intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal monosomy 9p | Is a | 9p partial monosomy syndrome | false | Inferred relationship | Some | ||
| Distal monosomy 9p | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal monosomy 9p | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 2 | |
| Distal monosomy 9p | Associated morphology | Partial monosomy | true | Inferred relationship | Some | 2 | |
| Distal monosomy 9p | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 1 | |
| Distal monosomy 9p | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal monosomy 9p | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 1 | |
| Distal monosomy 9p | Is a | Deletion of part of chromosome 9 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 9p24.3 deletion syndrome | Is a | True | Distal monosomy 9p | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR