Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3705815019 | Parietal foramina with clavicular hypoplasia | en | Synonym | Active | Case insensitive | SNOMED CT core |
3705816018 | Parietal foramina with clavicular hypoplasia (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3705817010 | Parietal foramina with cleidocranial dysplasia | en | Synonym | Active | Case insensitive | SNOMED CT core |
3705818017 | A rare genetic bone development disorder with characteristics of parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. There is evidence the disease is caused by heterozygous mutation in the MSX2 gene on chromosome 5q35. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set