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 |
| 3654875010 | Distal 17p13.3 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3654876011 | Distal monosomy 17p13.3 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3654877019 | Distal 17p13.3 microdeletion syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3654653011 | A rare partial monosomy of the short arm of chromosome 17 with a variable phenotype. The disease has characteristics of prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphism including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia but not lissencephaly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 926291000172111 | syndrome de microdélétion 17p13.3 distale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 956321000172118 | del(17)(p13.3) distale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal 17p13.3 microdeletion syndrome | Is a | Deletion of part of short arm of chromosome 17 (disorder) | true | Inferred relationship | Some | ||
| Distal 17p13.3 microdeletion syndrome | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Distal 17p13.3 microdeletion syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal 17p13.3 microdeletion syndrome | Finding site | Chromosome pair 17 | true | Inferred relationship | Some | 2 | |
| Distal 17p13.3 microdeletion syndrome | Finding site | Chromosome pair 17 | true | Inferred relationship | Some | 1 | |
| Distal 17p13.3 microdeletion syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal 17p13.3 microdeletion syndrome | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR