Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3704188015 | Monosomy 9p | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704189011 | 9p deletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704190019 | Monosomy 9p (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704191015 | Alfi syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3704192010 | A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4202701000052119 | monosomi 9p | 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 |
| Monosomy 9p | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Monosomy 9p | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 1 | |
| Monosomy 9p | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 2 | |
| Monosomy 9p | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 1 | |
| Monosomy 9p | Is a | Deletion of part of chromosome 9 (disorder) | true | Inferred relationship | Some | ||
| Monosomy 9p | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Monosomy 9p | Occurrence | Congenital | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR