Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3642753010 | Distal deletion 9p | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3642754016 | Distal monosomy 9p syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3642755015 | Distal monosomy 9p | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3642756019 | Distal monosomy 9p syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 7886691000146115 | syndroom van distale monosomie 9p (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7886701000146115 | syndroom van distale monosomie 9p | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7886721000146111 | distale monosomie 9p | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8033411000146118 | distale monosomie van korte arm van chromosoom 9 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal monosomy 9p syndrome (disorder) | Is a | 9p partial monosomy syndrome | false | Inferred relationship | Some | ||
| Distal monosomy 9p syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal monosomy 9p syndrome (disorder) | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 2 | |
| Distal monosomy 9p syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Distal monosomy 9p syndrome (disorder) | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 1 | |
| Distal monosomy 9p syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal monosomy 9p syndrome (disorder) | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 1 | |
| Distal monosomy 9p syndrome (disorder) | Is a | Deletion of part of chromosome 9 (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 9p24.3 deletion syndrome (disorder) | Is a | True | Distal monosomy 9p syndrome (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR