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 |
| 3654892018 | 9p13 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3654893011 | Monosomy 9p13 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3654894017 | 9p13 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3654655016 | A rare chromosomal anomaly syndrome resulting from a partial interstitial deletion of the short arm of chromosome 9. The disease has characteristics of mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 9p13 microdeletion syndrome (disorder) | Is a | 9p partial monosomy syndrome | false | Inferred relationship | Some | ||
| 9p13 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 9p13 microdeletion syndrome (disorder) | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 2 | |
| 9p13 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| 9p13 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 9p13 microdeletion syndrome (disorder) | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 1 | |
| 9p13 microdeletion syndrome (disorder) | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 1 | |
| 9p13 microdeletion syndrome (disorder) | Is a | Deletion of part of chromosome 9 (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR