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 |
| 3660635010 | Distal duplication 19q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3660636011 | Telomeric duplication 19q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3660638012 | Distal trisomy 19q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3660647016 | Distal trisomy 19q syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3660648014 | Distal trisomy 19q syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3659798013 | A rare chromosomal anomaly syndrome with characteristics of low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (for example clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal trisomy 19q | est un(e) (attribut) | 19q partial trisomy syndrome | true | Inferred relationship | Some | ||
| Distal trisomy 19q | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Distal trisomy 19q | localisation d'une constatation (attribut) | Chromosome pair 19 (cell structure) | true | Inferred relationship | Some | 1 | |
| Distal trisomy 19q | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR