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 |
| 7887371000146111 | monosomie 9p | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7887381000146113 | monosomie 9p (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8033591000146110 | 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) |
| 9448941000146111 | 9p-deletie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 |
| 9448931000146115 | Aangeboren chromosoomafwijkingen waarbij op de korte arm van chromosoom 9 erfelijk materiaal is weggevallen, waardoor een combinatie van klachten en aandoeningen tot uiting kan komen; de pasgeborene kenmerkt zich door een driehoekige schedel, grote afstand tussen de tepels, abnormale handen en voeten, een dikke nek en afwijkende genitaliën. | nl | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands 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