Status: retired, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3302360013 | Deletion of long arm of chromosome 17 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3302361012 | Deletion of long arm of chromosome 17 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3302362017 | Distal 17q deletion | en | Synonym | Active | Case insensitive | SNOMED CT core |
3302363010 | Distal monosomy 17q | en | Synonym | Active | Case insensitive | SNOMED CT core |
3302364016 | Telomeric deletion 17q | en | Synonym | Active | Case insensitive | SNOMED CT core |
3302365015 | A very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. | en | Definition | Active | Case sensitive | SNOMED CT core |
3302433019 | A very rare chromosomal disorder of unknown prevalence characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
17q23.1q23.2 microdeletion syndrome | Is a | False | Distal monosomy 17q | Inferred relationship | Some |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set